Zobrazeno 1 - 10
of 125
pro vyhledávání: '"Jm Cobben"'
Publikováno v:
BJOG, 114(6), 778-9; author reply 779. Wiley-Blackwell
Sir, In BJOG 114:3, Henderson et al. review studies on the effects of low to moderate prenatal alcohol exposure.1 Their stated goal was to review human studies tallying the following outcomes: ‘miscarriage, stillbirth, intrauterine growth restricti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b8660e4c4cc53fa06b59edfcf20767
https://doi.org/10.1111/j.1471-0528.2007.01352.x
https://doi.org/10.1111/j.1471-0528.2007.01352.x
Publikováno v:
American Journal of Medical Genetics, 33(4), 519-521. WILEY-LISS
We report on Poland anomaly in a mother and her daughter. Further family history was negative for abnormalities of the hands or the pectoralis major muscle. A review of published cases of familial Poland anomaly is presented. Implications concerning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cd23eb859e29a9945794a1db0454eb7
https://doi.org/10.1002/ajmg.1320330423
https://doi.org/10.1002/ajmg.1320330423
Autor:
Krzyzewska IM; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Lauffer P; Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Mul AN; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., van der Laan L; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Yim AYFL; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Cobben JM; Department of Pediatric Endocrinology and Faculty of Medicine, Northwest Thames Regional Genetics NHS, Imperial College, London SW7 2BX, UK., Niklinski J; Department of Molecular Biology, Medical University of Bialystok, Jana Kilińskiego 1, 15-089 Białystok, Poland., Chomczyk MA; Department of Molecular Biology, Medical University of Bialystok, Jana Kilińskiego 1, 15-089 Białystok, Poland., Smigiel R; Department of Genetics, Medical University of Wroclaw, Wybrzeże Ludwika Pasteura 1, 50-367 Wrocław, Poland., Mannens MMAM; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Henneman P; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2023 Apr 01; Vol. 24 (7). Date of Electronic Publication: 2023 Apr 01.
Autor:
Patel V; North West Thames Regional Genetics Service, NHS, Northwick Park & St Mark's Hospitals, London, Harrow, UK., Cui W; Faculty of Medicine, Department of Metabolism, Digestions and Reproduction, Imperial College London, London, UK., Cobben JM; North West Thames Regional Genetics Service, NHS, Northwick Park & St Mark's Hospitals, London, Harrow, UK.; Faculty of Medicine, Department of Metabolism, Digestions and Reproduction, Imperial College London, London, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Mar; Vol. 191 (3), pp. 850-854. Date of Electronic Publication: 2022 Dec 14.
Autor:
Ragoussis V; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.; NIHR Biomedical Research Centre, Oxford, UK., Pagnamenta AT; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK alistair@well.ox.ac.uk.; NIHR Biomedical Research Centre, Oxford, UK., Haines RL; East Midlands Regional Molecular Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Giacopuzzi E; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.; NIHR Biomedical Research Centre, Oxford, UK., McClatchey MA; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK., Sampson JR; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK., Cobben JM; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK.; Department of Pediatrics, Amsterdam University Medical Centres, Duivendrecht, Noord-Holland, Netherlands., Osio D; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK., Taylor JC; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.; NIHR Biomedical Research Centre, Oxford, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Apr; Vol. 59 (4), pp. 366-369. Date of Electronic Publication: 2021 Feb 05.
Autor:
Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York, USA., Radmanesh A; Division of Pediatric Neuroradiology, Department of Radiology, NYU School of Medicine, New York, New York, USA., Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Washington, USA., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Department of Neurology, University of Washington, Seattle, Washington, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Shieh JT; Institute for Human Genetics, Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, California, USA., Romoser S; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA., Bombei H; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA., Dowsett L; Kapi'olani Medical Specialists and Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, Hawaii, USA., Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, Florida, USA., Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA., Baker J; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Mendelsohn NJ; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Siekmeyer M; Department of Pediatrics Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Sorge I; Department of Pediatric Radiology, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Sansbury FH; All Wales Medical Genomics Service, Institute of Medical Genetics, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Watts P; Department of Ophthalmology, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Foulds NC; Wessex Clinical Genetics Services, Southampton University Hospital NHS Foundation Trust, Southampton, UK., Burton J; University of Illinois College of Medicine at Peoria, Peoria, Illinois, USA., Hoganson G; University of Illinois College of Medicine at Peoria, Peoria, Illinois, USA., Hurst JA; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK., Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK., Osio D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Kerecuk L; Renal Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Cobben JM; North West Thames Regional Genetic Services, Northwick Park Hospitals NHS Foundation Trust, London, UK.; Emma Children Hospital, Amsterdam, The Netherlands., Jizi K; CHU Sainte-Justine Hospital, Montreal, Quebec, Canada., Jacquemont S; CHU Sainte-Justine Research Centre, Montreal, Quebec, Canada.; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada., Bélanger SA; Development Clinic, CHU Sainte-Justine Hospital, Montreal, Quebec, Canada.; Department of Medicine, University of Montreal, Montreal, Quebec, Canada., Löhner K; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Lemmink HH; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Keller-Ramey J; GeneDx, Gaithersburg, Maryland, USA., Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA., Punj S; GeneDx, Gaithersburg, Maryland, USA., McWalter K; GeneDx, Gaithersburg, Maryland, USA., Lenberg J; Rady Children's Hospital Institute for Genomic Medicine, San Diego, California, USA., Ellsworth KA; Rady Children's Hospital Institute for Genomic Medicine, San Diego, California, USA., Radtke K; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Akbarian S; Friedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, New York, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Sep; Vol. 182 (9), pp. 2037-2048. Date of Electronic Publication: 2020 Jul 24.
Autor:
Nabais Sá MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Jensik PJ; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL, USA., McGee SR; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL, USA., Parker MJ; Sheffield Clinical Genetics Service, OPD2 Northern General Hospital, Sheffield, UK., Lahiri N; Department of Clinical Genetics, St George's University Hospitals NHS Foundation Trust & St George's, University of London, London, UK., McNeil EP; Dartmouth Geisel School of Medicine, Hanover, NH, USA., Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Hagerman RJ; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis School of Medicine, Sacramento, Sacramento, CA, USA.; Department of Pediatrics, University of California Davis Medical Center, Sacramento, Sacramento, CA, USA., Harrison RE; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Montgomery T; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Splitt M; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Palmer EE; Sydney Children's Hospital, Randwick, NSW, Australia.; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, NSW, Australia., Sachdev RK; Sydney Children's Hospital, Randwick, NSW, Australia.; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, NSW, Australia., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington-Seattle, Seattle, WA, USA., Scott AA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Lorenz R; Ludwig-Konrad-Str. 14, Bad Wildungen, Germany., Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Berg JN; Department of Clinical Genetics, Ninewells Hospital and Medical School, Dundee, Angus, UK.; Clinical Genetics, University of Dundee, Dundee, Angus, UK., Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique, INSERM UMR 1163, Institut Imagine, Paris, France., Heron D; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France., Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France., Cobben JM; Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; North West Thames Genetics NHS, Northwick Park Hospital, London, UK., Menke LA; Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Marco EJ; Department of Child Neurology, Cortica Healthcare, San Rafael, CA, USA., Graham JM Jr; Division of Clinical Genetics and Dysmorphology, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Pierson TM; Department of Pediatrics, Department of Neurology, and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, London, UK., Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, London, UK., Manzini MC; GW Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Cauley ES; GW Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Colombo R; Faculty of Medicine'Agostino Gemelli'Catholic University of the Sacred Heart, Rome, Italy.; Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy., Odent S; Service de Génétique Clinique, CLAD-Ouest CHU Rennes, Univ Rennes, CNRS 6290 Institut de Génétique et Développement de Rennes (IGDR), Rennes, France., Dubourg C; Univ Rennes, CHU Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, RI, USA., de Brouwer APM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Bert.deVries@radboudumc.nl., Vulto-vanSilfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2059-2069. Date of Electronic Publication: 2019 Mar 29.
Autor:
Cobben JM; Department of Pediatrics, Amsterdam University Medical Centers, Location AMC, Emma Children's Hospital, Amsterdam, The Netherlands., Krzyzewska IM; Department of Clinical Genetics, Genome Diagnostics Laboratory, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands., Venema A; Department of Clinical Genetics, Genome Diagnostics Laboratory, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands., Mul AN; Department of Clinical Genetics, Genome Diagnostics Laboratory, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands., Polstra A; Department of Clinical Genetics, Genome Diagnostics Laboratory, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands., Postma AV; Department of Clinical Genetics, Genome Diagnostics Laboratory, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands.; Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands., Smigiel R; Department of Pediatrics & Rare Disorders, Medical University of Wroclaw, Poland., Pesz K; Department of Genetics, Medical University of Wroclaw, Poland., Niklinski J; Department of Molecular Biology, Medical University of Bialystok, Poland., Chomczyk MA; Department of Molecular Biology, Medical University of Bialystok, Poland., Henneman P; Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands., Mannens MM; Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands.
Publikováno v:
Epigenomics [Epigenomics] 2019 May; Vol. 11 (7), pp. 767-785. Date of Electronic Publication: 2019 Mar 15.
Autor:
Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Kamsteeg EJ; Department of Human Genetics Radboud University Medical Center, Nijmegen, the Netherlands., Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands., van Deutekom AW; Department of Pediatric Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Buis DR; Department of Neurosurgery, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Engelen M; Department of Pediatric Neurology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Cobben JM; Department of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2018 Sep 13; Vol. 17, pp. 19-21. Date of Electronic Publication: 2018 Sep 13 (Print Publication: 2018).
Autor:
Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Janowski R; Institute of Structural Biology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany., Alvi M; Visual Geometry Group, Department of Engineering Science, University of Oxford, Oxford, UK., Self JE; Department of Ophthalmology, Southampton General Hospital, Southampton, UK.; Department of Clinical and Experimental Sciences, School of Medicine, University of Southampton, Southampton, UK., van Essen TJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Vreeburg M; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands., Rouhl RPW; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.; Academic Center for Epileptology, Kempenhaeghe/MUMC, Maastricht, The Netherlands., Stevens SJC; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands., Schieving J; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Dijk K; Department of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands., Smeets E; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands., Stumpel CTRM; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands., Bok LA; Department of Pediatrics, Máxima Medisch Centrum, Veldhoven, The Netherlands., Cobben JM; Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands., Engelen M; Department of Neurology and Pediatric Neurology, Emma Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands., Mansour S; SW Thames Regional Genetics Service, St. George's University NHS Foundation Trust, London, UK., Whiteford M; Department of Clinical Genetics, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK., Chandler KE; Division of Evolution and Genomic Sciences, School of Biological Sciences, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK., Cooper NS; West Midlands Regional Clinical Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK., Tan EC; KK Research Laboratory, KK Women's and Children's Hospital, Singapore., Foo R; National University Health Systems, Cardiovascular Research Institute, Singapore, Singapore.; Genome Institute of Singapore, Singapore, Singapore., Lai AHM; Departmentof Paediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Trust, Exeter, UK., Green A; Department of Clinical Genetics, School of Medicine and Medical Science, Our Lady's Hospital, University College Dublin, Dublin, Ireland., Lönnqvist T; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Isohanni P; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland., Williams S; Department of Pediatric Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA., Ruhoy I; Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, Washington, USA., Carvalho KS; Department of Pediatrics, Section of Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA., Dowling JJ; Division of Neurology and Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Lev DL; The Rina Mor Institute of Medical Genetics, Holon, Israel., Sterbova K; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Lassuthova P; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Neupauerová J; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic., Waugh JL; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Keros S; Sanford Children's Hospital, University of South Dakota, Sioux Falls, South Dakota, USA., Clayton-Smith J; Faculty of Medical and Human Sciences, Institute of Evolution, Systems and Genomics, University of Manchester, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Smithson SF; Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands., van Hoeckel C; PURA Syndrome Foundation, Tulsa, Oklahoma, USA., Anderson M; PURA Syndrome Foundation, Tulsa, Oklahoma, USA., Clowes VE; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK., Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine, University of Western Ontario, London, Ontario, Canada., Ddd Study T; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Selber P; Department of Orthopaedics, Royal Children's Hospital, Melbourne, Victoria, Australia., Leventer RJ; Department of Neurology, University of Melbourne Department of Paediatrics, The Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Nellaker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.; Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital Women's Centre, University of Oxford, Oxford, UK.; Department of Engineering Science, Institute of Biomedical Engineering, University of Oxford, Oxford, UK., Niessing D; Institute of Structural Biology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.; Department of Cell Biology, Biomedical Center of the Ludwig-Maximilians-Universität München, Planegg-Martinsried, Germany., Hunt D; Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Baralle D; Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2018 Feb; Vol. 55 (2), pp. 104-113. Date of Electronic Publication: 2017 Nov 02.