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1
المصدر: Clinical dysmorphology. 28(1)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, MEDLINE, Pathology and Forensic Medicine, Troponin T, Pregnancy, Medicine, Humans, Family, Genetics (clinical), Intrafamilial variability, Arthrogryposis, business.industry, Infant, Newborn, Infant, General Medicine, Distal arthrogryposis type 2B, medicine.disease, Pedigree, Pediatrics, Perinatology and Child Health, Female, Anatomy, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a67d1c65610ee16d2aafe883e8654ccd
https://pubmed.ncbi.nlm.nih.gov/30216196 -
2
المؤلفون: Emma M. Jenkinson, Robert J. Morell, Tom Walsh, William G. Newman, Jill E. Urquhart, Neil Billington, Meghan C. Drummond, Mary Claire King, Shaheen N. Khan, Sheikh Riazuddin, Thomas B. Friedman, Peter E. Clayton, Wasim Ahmad, Suzanne M. Leal, Jill Clayton-Smith, Atteeq U. Rehman, Andrew Berry, Deirdre D. Cilliers, Ming K. Lee, Graeme C.M. Black, Julie M. Schultz, Dorothy Trump, Julian R. E. Davis, Kwanghyuk Lee, Thomas T. Warner, Miriam J. Smith, Muhammad Asif Naeem, Sarju G. Mehta, Helen Kingston, Neil A. Hanley, Bushra Rauf
مصطلحات موضوعية: Adult, Male, Adolescent, Hearing Loss, Sensorineural, Genes, Recessive, Biology, Mitochondrion, medicine.disease_cause, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Adenosine Triphosphate, ATP-Dependent Proteases, Report, medicine, Genetics, Humans, Genetics(clinical), Exome, Allele, Gene, Genetics (clinical), Exome sequencing, In Situ Hybridization, 030304 developmental biology, 0303 health sciences, Mutation, Homozygote, Endopeptidase Clp, Disease gene identification, Phenotype, Molecular biology, Gonadal Dysgenesis, 46,XX, Mitochondria, Pedigree, Female, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b4b826499f8f0140feea7b2178d07e
https://europepmc.org/articles/PMC3617381/ -
3
المؤلفون: Davis, Deirdre D. Cilliers, Sarju G. Mehta, Christopher P. Bennett, Jill Clayton-Smith, Emma M. Jenkinson, Dorothy Trump, De Michele G, Gerard S. Conway, Andrew Green, Moreton N, Simon H. S. Pearce, Willie Reardon, William G. Newman
المساهمون: Jenkinson, Em, Clayton Smith, J, Mehta, S, Bennett, C, Reardon, W, Green, A, Pearce, Sh, DE MICHELE, Giuseppe, Conway, G, Cilliers, D, Moreton, N, Davis, Jr, Trump, D, Newman, W. G.
المصدر: Journal of neurology. 259(5)
مصطلحات موضوعية: Family Health, Male, Perrault syndrome, 17-Hydroxysteroid Dehydrogenases, Genetic heterogeneity, Learning Disabilities, Developmental Disabilities, Hearing Loss, Sensorineural, Biology, Gonadal Dysgenesis, 46,XX, Amino Acyl-tRNA Synthetases, Genetic Heterogeneity, Phenotype, Neurology, Evolutionary biology, Mutation, Humans, Female, Neurology (clinical), Peroxisomal Multifunctional Protein-2, Hydro-Lyases, Neuroradiology
وصف الملف: ELETTRONICO
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4
المؤلفون: Jill Clayton-Smith, Erguel Tuncbilek, Koray Boduroğlu, Eda Utine, Deirdre D. Cilliers, Yasemin Alanay
المصدر: Clinical dysmorphology. 16(2)
مصطلحات موضوعية: Male, Craniofacial abnormality, Corpus callosum, Pathology and Forensic Medicine, Craniofacial Abnormalities, Ptosis, Thoracic Diseases, Medicine, Humans, Genetics (clinical), Subluxation, Bone Diseases, Developmental, business.industry, Infant, Newborn, Infant, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Hypoplasia, Cerebro-facio-thoracic dysplasia, Phenotype, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Optic nerve, Female, Radiography, Thoracic, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a6e045bafee55e1316c04a1cb86d20e
https://pubmed.ncbi.nlm.nih.gov/17351359 -
5
المؤلفون: Stephen A. Cairns, Sheila Clarke, Deirdre D. Cilliers, Peter E. Clayton, William G. Newman, Graeme C.M. Black, Jill Clayton-Smith, Rahat Parveen, Stephen M Shalet
المصدر: European journal of medical genetics. 50(3)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Adolescent, Late onset, Short stature, Testicular Diseases, Genetic linkage, Genetics, medicine, Humans, Child, Wasting, Genetics (clinical), X chromosome, Growth Disorders, Chromosomes, Human, X, business.industry, Hypogonadism, Haplotype, Chromosome Mapping, Facies, General Medicine, Syndrome, medicine.disease, Pedigree, Developmental disorder, Haplotypes, Mental Retardation, X-Linked, Female, medicine.symptom, business, Microsatellite Repeats
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6دورية أكاديمية
المؤلفون: Peter M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Mellis R; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., McInnes-Dean H; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Antenatal Results and Choices, London, United Kingdom.; Department of Applied Health Research, University College London, London, United Kingdom.; Alström Syndrome UK, Torquay, United Kingdom.; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, United Kingdom.; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Peninsula Clinical Genetics Service, School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, United Kingdom.; Northern Genetics Service, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom.; Oxford Centre for Genomic Medicine, Oxford, United Kingdom.; Faculty of Medicine, Imperial College & North West Thames Regional Genetics Service, London, United Kingdom.; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Clinical Genetics Department, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; St George's University Hospitals NHS Foundation Trust, London, United Kingdom.; Department of Obstetrics and Gynaecology, Nottingham University Hospitals, Nottingham, United Kingdom.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Sheffield Clinical Genomics Service, Sheffield, United Kingdom.; Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom.; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom.; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Daniel M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Walton H; Department of Applied Health Research, University College London, London, United Kingdom., Fisher J; Antenatal Results and Choices, London, United Kingdom., Leeson-Beevers K; Alström Syndrome UK, Torquay, United Kingdom., Allen S; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, United Kingdom., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Peninsula Clinical Genetics Service, School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Beleza-Meireles A; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, United Kingdom., Bertoli M; Northern Genetics Service, International Centre for Life, Newcastle upon Tyne, United Kingdom., Campbell J; Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Canham N; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom., Cilliers D; Oxford Centre for Genomic Medicine, Oxford, United Kingdom., Cobben J; Faculty of Medicine, Imperial College & North West Thames Regional Genetics Service, London, United Kingdom., Eason J; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom., Holder-Espinasse M; Clinical Genetics Department, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Male A; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Mansour S; St George's University Hospitals NHS Foundation Trust, London, United Kingdom., McEwan A; Department of Obstetrics and Gynaecology, Nottingham University Hospitals, Nottingham, United Kingdom., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom., Stewart A; Sheffield Clinical Genomics Service, Sheffield, United Kingdom., Tapon D; Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom., Williams D; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Wu WH; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Hill M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
المصدر: Frontiers in genetics [Front Genet] 2024 Jun 05; Vol. 15, pp. 1401705. Date of Electronic Publication: 2024 Jun 05 (Print Publication: 2024).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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7دورية أكاديمية
المؤلفون: Walton IS; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK., McCann E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK., Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ching RC; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Johnson D; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Phipps JM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Shears DJ; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Thomas GPL; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Wall SA; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Twigg SRF; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
المصدر: Journal of anatomy [J Anat] 2024 May 17. Date of Electronic Publication: 2024 May 17.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0137162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7580 (Electronic) Linking ISSN: 00218782 NLM ISO Abbreviation: J Anat Subsets: MEDLINE
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8دورية أكاديمية
المؤلفون: Allen SK; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, UK., Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kinning E; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Foundation Trust, Birmingham, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Brothwell SLC; Department of Inherited Metabolic Diseases, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Vijay S; Department of Inherited Metabolic Diseases, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Castleman J; Fetal Medicine Department, Birmingham Women's and Children's Foundation Trust, Birmingham, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 432-442. Date of Electronic Publication: 2023 Dec 08.
نوع المنشور: Review; Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
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9دورية أكاديمية
المؤلفون: Pagnamenta AT; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Camps C; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Giacopuzzi E; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Human Technopole, Viale Rita Levi Montalcini 1, 20157, Milan, Italy., Taylor JM; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK., Hashim M; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Calpena E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Kaisaki PJ; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Hashimoto A; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Yu J; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Sanders E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Schwessinger R; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Hughes JR; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Lunter G; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; University Medical Center Groningen, Groningen University, PO Box 72, 9700 AB, Groningen, The Netherlands., Dreau H; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK., Ferla M; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Lange L; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Kesim Y; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Ragoussis V; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Vavoulis DV; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK., Allroggen H; Neurosciences Department, UHCW NHS Trust, Clifford Bridge Road, Coventry, CV2 2DX, UK., Ansorge O; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Babbs C; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK., Baños-Piñero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK., Beeson D; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Ben-Ami T; Pediatric Hematology-Oncology Unit, Kaplan Medical Center, Rehovot, Israel., Bennett DL; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Bento C; Hematology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal., Blair E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Bull KR; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Cario H; Department of Pediatrics and Adolescent Medicine, University Medical Center, Eythstrasse 24, 89075, Ulm, Germany., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK., Conti V; Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy., Davies EG; Department of Immunology, Great Ormond Street Hospital for Children NHS Trust and UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research, 2Nd Floor, 20C Guilford Street, London, WC1N 1DZ, UK., Dhalla F; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Drive, Oxford, OX3 7TY, UK., Dacal BD; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK., Dong Y; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Dunford JE; Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre, Old Road, Oxford, OX3 7HE, UK., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy., Harris AL; Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK., Hartley J; Liver Unit, Birmingham Women's & Children's Hospital and University of Birmingham, Steelhouse Lane, Birmingham, B4 6NH, UK., Hollander G; Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Javaid K; Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre, Old Road, Oxford, OX3 7HE, UK., Kane M; Department of Pharmaceutical Sciences, School of Pharmacy, University of Maryland, Pharmacy Hall North, Room 731, 20 N. Pine Street, Baltimore, MD, 21201, USA., Kelly D; Liver Unit, Birmingham Women's & Children's Hospital and University of Birmingham, Steelhouse Lane, Birmingham, B4 6NH, UK., Kelly D; Children's Hospital, OUH NHS Foundation Trust, NIHR Oxford BRC, Headley Way, Oxford, OX3 9DU, UK., Knight SJL; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Kreins AY; Department of Immunology, Great Ormond Street Hospital for Children NHS Trust and UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research, 2Nd Floor, 20C Guilford Street, London, WC1N 1DZ, UK., Kvikstad EM; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Langman CB; Feinberg School of Medicine, Northwestern University, 211 E Chicago Avenue, Chicago, IL, MS37, USA., Lester T; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK., Lines KE; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital, Oxford, OX3 7LJ, UK., Lord SR; Early Phase Clinical Trials Unit, Department of Oncology, University of Oxford, Cancer and Haematology Centre, Level 2 Administration Area, Churchill Hospital, Oxford, OX3 7LJ, UK., Lu X; Nuffield Department of Clinical Medicine, Ludwig Institute for Cancer Research, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK., Mansour S; St George's University Hospitals NHS Foundation Trust, Blackshore Road, Tooting, London, SW17 0QT, UK., Manzur A; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Marsden B; Nuffield Department of Medicine, Kennedy Institute, University of Oxford, Oxford, OX3 7BN, UK., Mason J; Yourgene Health Headquarters, Skelton House, Lloyd Street North, Manchester Science Park, Manchester, M15 6SH, UK., McGowan SJ; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy., Mlcochova H; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Murakami Y; Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK., Okoli S; Imperial College NHS Trust, Department of Haematology, Hammersmith Hospital, Du Cane Road, London, W12 0HS, UK., Ormondroyd E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; University of Oxford, Level 6 West Wing, Oxford, OX3 9DU, JR, UK., Ousager LB; Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Palace J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Patel SY; Clinical Immunology, John Radcliffe Hospital, Level 4A, Oxford, OX3 9DU, UK., Pentony MM; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Pugh C; Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Rad A; Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, Elfriede-Aulhorn-Str. 5, 72076, Tübingen, Germany., Ramesh A; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Riva SG; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Roberts I; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Roy N; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Level 4, Haematology, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Salminen O; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK., Schilling KD; Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Chicago, IL, 60611, USA., Scott C; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Sen A; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Smith C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK., Stevenson M; University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital, Oxford, OX3 7LJ, UK., Thakker RV; University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital, Oxford, OX3 7LJ, UK., Twigg SRF; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Uhlig HH; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK.; Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, OX3 9DU, UK., van Wijk R; UMC Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Vona B; Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, Elfriede-Aulhorn-Str. 5, 72076, Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Wall S; Oxford Craniofacial Unit, John Radcliffe Hospital, Level LG1, West Wing, Oxford, OX3 9DU, UK., Wang J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Watkins H; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; University of Oxford, Level 6 West Wing, Oxford, OX3 9DU, JR, UK., Zak J; Nuffield Department of Clinical Medicine, Ludwig Institute for Cancer Research, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.; Department of Immunology and Microbiology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA., Schuh AH; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK., Kini U; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK., Wilkie AOM; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Popitsch N; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Biochemistry and Cell Biology, Max Perutz Labs, University of Vienna, Vienna BioCenter(VBC), Dr.-Bohr-Gasse 9, 1030, Vienna, Austria., Taylor JC; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK. jenny.taylor@well.ox.ac.uk.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK. jenny.taylor@well.ox.ac.uk.
المصدر: Genome medicine [Genome Med] 2023 Nov 09; Vol. 15 (1), pp. 94. Date of Electronic Publication: 2023 Nov 09.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
مواضيع طبية MeSH: Genetic Variation* , Rare Diseases*/diagnosis , Rare Diseases*/genetics, Humans ; Whole Genome Sequencing ; Genetic Testing ; Mutation ; Cell Cycle Proteins
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10دورية أكاديمية
المؤلفون: Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Zhang B; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Lindsey A; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lesinski J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Nonet ML; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America., Chen J; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Baldridge D; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Silverman GA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Hicks MJ; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Pottinger C; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Krakow D; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America., Schedl T; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Pak SC; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.
مؤلفون مشاركون: Undiagnosed Diseases Network
المصدر: PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011005. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
مواضيع طبية MeSH: Kinesins*/genetics , Kinesins*/metabolism , Osteogenesis Imperfecta*, Animals ; Humans ; Mice ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism ; Carrier Proteins/genetics ; Down-Regulation ; NIH 3T3 Cells ; Proteomics ; Signal Transduction/genetics ; TOR Serine-Threonine Kinases/genetics ; TOR Serine-Threonine Kinases/metabolism
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