-
1دورية أكاديمية
المؤلفون: Hilton, EN, Manson, FDC, Urquhart, JE, Johnston, JJ, Slavotinek, AM, Hedera, P, Stattin, EL, Nordgren, A, Biesecker, LG, Black, GCM
المصدر: Human molecular genetics. 16(14):1773-1782
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Sherr, Elliott, Jenkinson, EM, Rodero, MP, Kasher, PR, Uggenti, C, Oojageer, A, Goosey, LC, Rose, Y, Kershaw, CJ, Urquhart, JE, Williams, SG
URL الوصول: https://escholarship.org/uc/item/5c0848w3
-
3
المؤلفون: Hochberg, I, Demain, LAM, Richer, J, Thompson, K, Pagarkar, W, Seuma, ARP, Verdura, E, Pujol, A, Amberger, A, Deutschmann, AJ, Demetz, S, O'Sullivan, J, Gillespie, M, Belyantseva, IA, McMillan, HJ, Barzik, M, Urquhart, JE, Rea, A, Beaman, GM, Williams, SG, Bhaskar, SS, Lawrence, IR, Jenkinson, EM, Zambonin, JL, Blumenfeld, Z, Yalonetsky, S, Oerum, S, Rossmanith, W, Yue, WW, Zschocke, J, Munro, KJ, Battersby, BJ, Friedman, TB, Taylor, RW, O'Keefe, RT, Newman, WG
المصدر: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname -
4Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6
المؤلفون: Ratbi, I, Falkenberg, KD, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, JE, Chandler, KE, Williams, SJ, Roberts, NA, El Alloussi, M, Black, GC, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S, Cooper, N, Ong, KR, Smith, CEL, Inglehearn, CF, Mighell, AJ, Elcock, C, Poulter, JA, Tischkowitz, M, Davies, SJ, Sefiani, A, Mironov, AA, Newman, WG, Waterham, HR, Van Camp, G
المساهمون: Graduate School, Laboratory for General Clinical Chemistry, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases
المصدر: The American journal of human genetics
Ratbi, I, Falkenberg, K D, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, J, Chandler, K E, Williams, S, Roberts, N, El Alloussi, M, Black, G, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S-A, Cooper, N, Ong, K R, Smith, C E L, Inglehearn, C F, Mighell, A J, Elcock, C, Poulter, J A, Tischkowitz, M, Davies, S J, Sefiani, A, Mironov, A, Newman, W, Waterham, H R & Van Camp, G 2015, ' Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ', American Journal of Human Genetics, vol. 97, no. 4, pp. 535-545 . https://doi.org/10.1016/j.ajhg.2015.08.011
American journal of human genetics, 97(4), 535-545. Cell Pressمصطلحات موضوعية: Adult, Male, Adolescent, Amelogenesis Imperfecta, Hearing Loss, Sensorineural, Nails, Malformed, Article, Young Adult, Genetics, Peroxisomes, Humans, Genetics(clinical), Child, Cells, Cultured, Adenosine Triphosphatases, Infant, Newborn, Infant, Membrane Proteins, Fibroblasts, Prognosis, Pedigree, Survival Rate, Phenotype, Case-Control Studies, Child, Preschool, Mutation, ATPases Associated with Diverse Cellular Activities, Female, Human medicine, Follow-Up Studies
وصف الملف: pdf; application/pdf
-
5
وصف الملف: text; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2295::9c68427d582e2c74b36f82524843b75a
http://www.manchester.ac.uk/escholar/uk-ac-man-scw:262860 -
6
المؤلفون: Ram L. Kumar, Marjo S. van der Knaap, Sanjeev S. Bhaskar, Pierre-Yves Jeannet, John B.P. Stephenson, Gillian I. Rice, Joel Victor Fluss, James O'Sullivan, Raphael Schiffmann, Johannes A. Buckard, Andrea Whitney, Riyana Babul-Hirji, Catheline Vilain, Beverley Anderson, Yanick J. Crow, Emma M. Jenkinson, Gunnar Houge, Ewan Forrest, Vanessa Wermenbol, Peter Baxter, Sarah B. Daly, Marcin Szynkiewicz, Joanne Muter, Rosalind J. Jefferson, Wui K. Chong, Elisabeth Oppliger Leibundgut, Gabriela M. Baerlocher, Stefan Meyer, Jonathan E. Dickerson, Ramesh Mehta, Emma Wakeling, Sarah Risen, José Pedro Vieira, Sakkubai Naidu, Andrea Berger, Calvin Soh, John H. Livingston, David Chitayat, Staffan Lundberg, Simon C. Lovell, Luís Catela Nunes, Helen Stewart, Graeme C.M. Black, John Tolmie, Janice E Brunstom-Hernandez, Jill E. Urquhart, Josephine Mayer, Ghada M H Abdel-Salem, Paul R. Kasher, Charles Marques Lourenço, Simon Hammans, Emilio Franzoni, Caterina Garone, Katrin Õunap, Duccio Maria Cordelli, Prab Prabhakar, Ken K. Nischal, Luisa Bonafé, Michel Philippart, Sébastien Jacquemont, Patrick Ferreira, Imelda Hughes, Jon Stone, Georg Kutschke
المساهمون: Fluss, Joel Victor, Jeannet, Pierre-Yves, Pediatric surgery, NCA - Childhood White Matter Diseases, Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ, Other departments, Neuroscience Campus Amsterdam - Childhood White Matter Diseases
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nature Genetics, Vol. 44, No 3 (2012) pp. 338-42
Anderson, B H, Kasher, P R, Mayer, J, Szynkiewicz, M, Jenkinson, E M, Bhaskar, S S, Urquhart, J E, Daly, S B, Dickerson, J E, O'Sullivan, J, Leibundgut, E O, Muter, J, Abdel-Salem, G M H, Babul-Hirji, R, Baxter, P, Berger, A, Bonafe, L, Brunstom-Hernandez, J E, Buckard, J A, Chitayat, D, Chong, W K, Cordelli, D M, Ferreira, P, Fluss, J, Forrest, E H, Franzoni, E, Garone, C, Hammans, S R, Houge, G, Hughes, I, Jacquemont, S, Jeannet, P Y, Jefferson, R J, Kumar, R, Kutschke, G, Lundberg, S, Lourenco, C M, Mehta, R, Naidu, S, Nischal, K K, Nunes, L, Ounap, K, Philippart, M, Prabhakar, P, Risen, S R, Schiffmann, R, Soh, C, Stephenson, J B P, Stewart, H, Stone, J, Tolmie, J L, van der Knaap, M S, Vieira, J P, Vilain, C N, Wakeling, E L, Wermenbol, V, Whitney, A, Lovell, S C, Meyer, S, Livingston, J H, Baerlocher, G M, Black, G C M, Rice, G I & Crow, Y J 2012, ' Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus ', Nature Genetics, vol. 44, no. 3, pp. 338-U1604 . https://doi.org/10.1038/ng.1084
Nature Genetics, 44(3), 338-U1604. Nature Publishing Group
Nature genetics, 44(3), 338-342. Nature Publishing Groupمصطلحات موضوعية: DNA polymerase, Molecular Sequence Data, Telomere-Binding Proteins, Histones/metabolism, HDE GEN, HDE NEU PED, CST complex, CEREBRORETINAL MICROANGIOPATHY, FAMILIAL SYNDROME, CALCIFICATIONS, CYSTS, PROTEIN, DNA, LEUKOENCEPHALOPATHY, EVOLUTION, DEFECTS, Histones, chemistry.chemical_compound, Abnormalities, Multiple/genetics, Genetics, medicine, Abnormalities, Multiple, Genetic Predisposition to Disease, Telomere-binding protein, Telomere/pathology, ddc:618, biology, Base Sequence, Genetic Predisposition to Disease/genetics, DNA replication, Sequence Analysis, DNA, Telomere, medicine.disease, Flow Cytometry, Cell biology, Retinal Telangiectasis/genetics/pathology, chemistry, Sequence Analysis, DNA/methods, biology.protein, Retinal Telangiectasis, Primase, Telomere-Binding Proteins/genetics, DNA, Dyskeratosis congenita
وصف الملف: STAMPA
-
7دورية أكاديمية
المؤلفون: Harkness JR; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK., Thomas HB; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK., Urquhart JE; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK., Jamieson P; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., O'Keefe RT; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK., Kingston HM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Deshpande C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Newman WG; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK. Electronic address: william.newman@manchester.ac.uk.
مؤلفون مشاركون: Genomics England Research Consortium
المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104907. Date of Electronic Publication: 2023 Dec 21.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
مواضيع طبية MeSH: Cutis Laxa*/genetics , Ehlers-Danlos Syndrome*/genetics, Humans ; Male ; Copper-Transporting ATPases/genetics ; Mutation ; Peptide Fragments/genetics ; Phenotype
SCR Disease Name: Occipital horn syndrome
-
8دورية أكاديمية
المؤلفون: Vidali S; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Gerlini R; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Thompson K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Urquhart JE; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Meisterknecht J; Functional Proteomics, Institute for Cardiovascular Physiology, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany., Aguilar-Pimentel JA; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Amarie OV; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Breen C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Calzada-Wack J; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Chhabra NF; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Cho YL; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., da Silva-Buttkus P; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Gampe K; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hoefig KP; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich, Germany., Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany., Jameson E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Klein-Rodewald T; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Leuchtenberger S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Marschall S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Mayer-Kuckuk P; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Miller G; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Oestereicher MA; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Pfannes K; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Institute of Molecular Animal Breeding and Biotechnology, Ludwig-Maximilians University Munich, Munich, Germany., Rozman J; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Sanders C; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Spielmann N; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Stoeger C; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Szibor M; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Department of Cardiothoracic Surgery, Jena University Hospital, Jena, Germany., Treise I; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Walter JH; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany.; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, Germany., Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Gärtner U; Institute for Anatomy and Cell Biology, Justus-Liebig-University of Giessen, Giessen, Germany., Wittig I; Functional Proteomics, Institute for Cardiovascular Physiology, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany.; German Center for Cardiovascular Research (DZHK), Partner site RheinMain, Frankfurt, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Newman WG; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hrabě de Angelis M; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany.
المصدر: EMBO molecular medicine [EMBO Mol Med] 2021 Dec 07; Vol. 13 (12), pp. e14397. Date of Electronic Publication: 2021 Nov 08.
نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: EMBO Press Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
مواضيع طبية MeSH: Mitochondrial Diseases*/genetics, Animals ; Electron Transport Complex III ; Exons ; Homozygote ; Humans ; Mice ; Phenotype ; Sequence Deletion
-
9
المؤلفون: Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B
المصدر: American journal of human genetics [Am J Hum Genet] 2021 Dec 02; Vol. 108 (12), pp. 2386-2388.
نوع المنشور: Published Erratum
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE
-
10دورية أكاديمية
المؤلفون: Hochberg I; Institute of Endocrinology, Diabetes, and Metabolism, Rambam Health Care Campus, Haifa 3109601, Israel; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3109601, Israel., Demain LAM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Richer J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Thompson K; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Urquhart JE; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Rea A; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Pagarkar W; Royal National ENT and Eastman Dental Hospital, University College London Hospitals, London WC1E 6DG, UK., Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, 08916 Barcelona, Spain., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution for Research and Advanced Studies, 08010 Barcelona, Spain., Quijada-Fraile P; Unit of Mitochondrial and Inherited Metabolic Diseases, Pediatric Department, University Hospital 12 de Octubre, National Reference Center, European Reference Network for Hereditary Metabolic Disorders, 28041 Madrid, Spain., Amberger A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Deutschmann AJ; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Demetz S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Gillespie M; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., McMillan HJ; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., Beaman GM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Motha R; The Royal London Hospital, Whitechapel Road, Whitechapel, London E1 1FR, UK., Ng KY; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland., O'Sullivan J; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Williams SG; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Bhaskar SS; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Lawrence IR; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Jenkinson EM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK., Zambonin JL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Blumenfeld Z; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3109601, Israel., Yalonetsky S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa 3109601, Israel., Oerum S; Newcastle MX Structural Biology Laboratory, Newcastle University, Medical School, NUBI Framlington Place, Newcastle upon Tyne NE2 4HH, UK., Rossmanith W; Center for Anatomy and Cell Biology, Medical University of Vienna, 1090 Vienna, Austria., Yue WW; Newcastle MX Structural Biology Laboratory, Newcastle University, Medical School, NUBI Framlington Place, Newcastle upon Tyne NE2 4HH, UK., Zschocke J; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Munro KJ; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Battersby BJ; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., Taylor RW; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., O'Keefe RT; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK. Electronic address: rokeefe@manchester.ac.uk., Newman WG; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchester.ac.uk.
مؤلفون مشاركون: Genomics England Research Consortium
المصدر: American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2195-2204. Date of Electronic Publication: 2021 Oct 28.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Alleles* , Genetic Pleiotropy*, Mitochondria/*enzymology , RNA, Mitochondrial/*genetics , RNA, Transfer/*genetics , Ribonuclease P/*genetics, Adult ; Female ; Humans ; Male ; Pedigree
Full Text Finder 
Find this article in full text from Springer Verlag. 
Full Text via ClinicalKey