نتائج البحث - "Ousager LB"

المساهمون: Blaumeiser, Bettina, 2p15 Consortium, 16p11.2 Consortium, Loviglio, M.N., Männik, K., van der Werf, I., Giannuzzi, G., Zazhytska, M., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Roberts-Caldeira, I., Hippolyte, L., Maillard, A.M., Ferrarini, A., Butschi, F.N., Conrad, B., Addor, M.C., Belfiore, M., Roetzer, K., Dijck, A.V., Blaumeiser, B., Kooy, F., Roelens, F., Dheedene, A., Chiaie, B.D., Menten, B., Oostra, A., Caberg, J.H., Carter, M., Kellam, B., Stavropoulos, D.J., Marshall, C., Scherer, S.W., Weksberg, R., Cytrynbaum, C., Bassett, A., Lowther, C., Gillis, J., MacKay, S., Bache, I., Ousager, L.B., Smerdel, M.P., Graakjaer, J., Kjaergaard, S., Metspalu, A., Mathieu, M., Bonneau, D., Guichet, A., Parent, P., Férec, C., Gerard, M., Plessis, G., Lespinasse, J., Masurel, A., Marle, N., Faivre, L., Callier, P., Layet, V., Meur, N.L., Le Goff, C., Duban-Bedu, B., Sukno, S., Boute, O., Andrieux, J., Blanchet, P., Geneviève, D., Puechberty, J., Schneider, A., Leheup, B., Jonveaux, P., Mercier, S., David, A., Le Caignec, C., de Pontual, L., Pipiras, E., Jacquette, A., Keren, B., Gilbert-Dussardier, B., Bilan, F., Goldenberg, A., Chambon, P., Toutain, A., Till, M., Sanlaville, D., Leube, B., Royer-Pokora, B., Grabe, H.J., Schmidt, C.O., Schurmann, C., Homuth, G., Thorleifsson, G., Thorsteinsdottir, U., Bernardini, L., Novelli, A., Micale, L., Merla, G., Zollino, M., Mari, F., Rizzo, C.L., Renieri, A., Silengo, M., Vulto-van Silfhout, A.T., Schouten, M., Pfundt, R., de Leeuw, N., Vansenne, F., Maas, S.M., Barge-Schaapveld, D.Q., Knegt, A.C., Stadheim, B., Rodningen, O., Houge, G., Price, S., Hawkes, L., Campbell, C., Kini, U., Vogt, J., Walters, R., Blakemore, A., Gusella, J.F., Shen, Y., Scott, D., Bacino, C.A., Tsuchiya, K., Ladda, R., Sell, S., Asamoah, A., Hamati, A.I., Rosenfeld, J.A., Shaffer, L.G., Mitchell, E., Hodge, J.C., Beckmann, J.S., Jacquemont, S., Reymond, A., Ewans, L.J., Mowat, D., Walker, J., Amor, D.J., Esch, H.V., Leroy, P., Bamforth, J.S., Babu, D., Isidor, B., DiDonato, N., Hackmann, K., Passeggeri, M., Haeringen, A.V., Smith, R., Ellingwood, S., Farber, D.M., Puri, V., Zadeh, N., Weaver, D.D., Miller, M., Wilks, T., Jorgez, C.J., Lafayette, D., Other departments, Human Genetics

المصدر: Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Autism Spectrum Disorder, Obesity/genetics, Settore MED/03 - GENETICA MEDICA, Body Mass Index, Microcephaly/genetics, Gene duplication, Chromosome Duplication, ddc:576.5, Copy-number variation, Child, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics, medicine.diagnostic_test, Chromosome Mapping, Middle Aged, Phenotype, Chromatin, Chemistry, Psychiatry and Mental Health, Child, Preschool, Female, Original Article, Chromosomes, Human, Pair 16/genetics, Megalencephaly/genetics, Chromosome Deletion, Autistic Disorder/genetics, Molecular Biology, Cellular and Molecular Neuroscience, Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Adolescent, DNA Copy Number Variations, Locus (genetics), DNA Copy Number Variations/genetics, Biology, Aged, Autistic Disorder, Chromosomes, Human, Pair 16, Humans, Infant, Intellectual Disability, Megalencephaly, Obesity, Chromosomes, Fluorescence, Chromatin/metabolism, 03 medical and health sciences, medicine, Preschool, Gene, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Pair 16, medicine.disease, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, 030104 developmental biology, Human medicine, Chromosome Mapping/methods, Fluorescence in situ hybridization

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e98c19065714c6dc4dc463a87aed674
https://pubmed.ncbi.nlm.nih.gov/27240531

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Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant.

المؤلفون: Øzdemir CM; Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark., Nielsen MM; Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus N, Denmark., Liimatta J; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern University Hospital, University of Bern, Switzerland.; Department of Biomedical Research, University of Bern, Switzerland.; Kuopio Pediatric Research Unit (KuPRu), University of Eastern Finland, Kuopio, Finland., Voegel CD; Department of Biomedical Research, University of Bern, Switzerland.; Department of Nephrology, Bern University Hospital, University of Bern, Switzerland., Elzenaty RN; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern University Hospital, University of Bern, Switzerland.; Department of Biomedical Research, University of Bern, Switzerland.; Graduate School of Cellular and Biomedical Sciences, University of Bern, Switzerland., Wasehuus VS; Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark., Lind-Holst M; Department of Paediatrics, Odense University Hospital, Odense, Denmark.; Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark., Ornstrup MJ; Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark.; Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark., Gram SB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Flück CE; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern University Hospital, University of Bern, Switzerland.; Department of Biomedical Research, University of Bern, Switzerland., Gravholt CH; Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark.; Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark.; Department of Clinical Medicine, Aarhus University Hospital, Aarhus N, Denmark.

المصدر: Endocrinology, diabetes & metabolism case reports [Endocrinol Diabetes Metab Case Rep] 2024 Aug 01; Vol. 2024 (3). Date of Electronic Publication: 2024 Aug 01 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Bioscientifica Country of Publication: England NLM ID: 101618943 Publication Model: Electronic-Print Cited Medium: Print ISSN: 2052-0573 (Print) Linking ISSN: 20520573 NLM ISO Abbreviation: Endocrinol Diabetes Metab Case Rep Subsets: PubMed not MEDLINE

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Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.

المؤلفون: Gram SB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; European Reference Network for Rare Skin Diseases (ERN-Skin), Odense, Denmark., Jørgensen ASF; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Bygum A; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Hudklinikken Kolding, Kolding, Denmark., Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

المصدر: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 561-566. Date of Electronic Publication: 2024 Feb 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Keratoderma, Palmoplantar*/genetics, Humans ; Skin ; Heterozygote ; Haplotypes ; Denmark ; Adaptor Proteins, Vesicular Transport

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تقرير

Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk.

المؤلفون: Gram SB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; European Reference Network for Rare Skin Diseases (ERN-Skin), Odense, Denmark., Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Bygum A; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Hudklinikken Kolding, Koldig, Denmark., Christensen AH; Department of Cardiology, Rigshospitalet and Herlev-Gentofte Hospitals, Hellerup, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

المصدر: The Journal of dermatology [J Dermatol] 2024 May; Vol. 51 (5), pp. e143-e144. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 7600545 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1346-8138 (Electronic) Linking ISSN: 03852407 NLM ISO Abbreviation: J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Keratoderma, Palmoplantar*/diagnosis , Keratoderma, Palmoplantar*/genetics , Keratoderma, Palmoplantar*/etiology , Keratoderma, Palmoplantar*/pathology, Humans ; Female ; Cardiomyopathies/diagnosis ; Cardiomyopathies/etiology ; Hair/pathology ; Male ; Hair Diseases/diagnosis ; Adult ; Middle Aged

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Risk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls.

المؤلفون: Jelsig AM; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark. Electronic address: anne.marie.jelsig@regionh.dk., Wullum L; Omicron ApS, Copenhagen, Denmark., Kuhlmann TP; Department of Pathology, Copenhagen University Hospital, Herlev, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Burisch J; Danish Polyposis Registry, Gastrounit, Copenhagen University Hospital-Amager and Hvidovre, Hvidovre, Denmark., Karstensen JG; Danish Polyposis Registry, Gastrounit, Copenhagen University Hospital-Amager and Hvidovre, Hvidovre, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

المصدر: Gastroenterology [Gastroenterology] 2023 Dec; Vol. 165 (6), pp. 1565-1567.e2. Date of Electronic Publication: 2023 Sep 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

مواضيع طبية MeSH: Peutz-Jeghers Syndrome*/complications , Peutz-Jeghers Syndrome*/genetics , Neoplastic Syndromes, Hereditary*/genetics , Intestinal Polyposis*/diagnosis, Humans ; Cohort Studies

SCR Disease Name: Juvenile polyposis syndrome

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Editorial & Opinion

Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.

المؤلفون: Miceikaitė I; University of Southern Denmark, Odense, Denmark ieva.miceikaite@gmail.com., Hao Q; Odense University Hospital, Odense, Denmark., Brasch-Andersen C; Odense University Hospital, Odense, Denmark., Fagerberg CR; Odense University Hospital, Odense, Denmark., Torring PM; Odense University Hospital, Odense, Denmark., Kristiansen BS; Odense University Hospital, Odense, Denmark., Ousager LB; University of Southern Denmark, Odense, Denmark., Sperling L; Odense University Hospital, Odense, Denmark., Ibsen MH; University Hospital of Southwestern Jutland, Esbjerg, Denmark., Löser K; Hospital of Southern Jutland, Aabenraa, Denmark., Larsen MJ; University of Southern Denmark, Odense, Denmark.

المصدر: The New England journal of medicine [N Engl J Med] 2023 Nov 23; Vol. 389 (21), pp. 2017-2019.

نوع المنشور: Letter

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing*/methods , Prenatal Diagnosis*/methods , Fetal Diseases*/genetics , Genetic Testing*/methods, Female ; Humans ; Pregnancy ; Fetus/diagnostic imaging ; Ultrasonography, Prenatal

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

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. 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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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