Zobrazeno 1 - 10
of 1 699
pro vyhledávání: '"COBBEN, JM"'
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:
Hammond, P, Mckee, S, Suttie, M, Allanson, J, Cobben, Jm, Maas, Sm, Quarrell, O, Smith, Ac, Lewis, S, Tassabehji, M, Sisodiya, S, Mattina, Teresa, Hennekam, R.
Publikováno v:
Human Genetics
Human genetics, 133(9), 1117-1125. Springer Verlag
Human genetics, 133(9), 1117-1125. Springer Verlag
Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size, cognition and behaviour is known to result from deletions and reciprocal duplications of som
Autor:
Vastrad, Basavaraj1 (AUTHOR), Vastrad, Chanabasayya2 (AUTHOR) channu.vastrad@gmail.com
Publikováno v:
Egyptian Journal of Medical Human Genetics. 10/12/2024, Vol. 25 Issue 1, p1-104. 104p.
Autor:
Tomusiak, Alan1,2 (AUTHOR), Floro, Ariel1,2 (AUTHOR), Tiwari, Ritesh1 (AUTHOR), Riley, Rebeccah1 (AUTHOR), Matsui, Hiroyuki1 (AUTHOR), Andrews, Nicolas1 (AUTHOR), Kasler, Herbert G.1 (AUTHOR), Verdin, Eric1 (AUTHOR) everdin@buckinstitute.org
Publikováno v:
Communications Biology. 8/2/2024, Vol. 7 Issue 1, p1-13. 13p.
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.
Publikováno v:
Genetic counseling, 13(1), 49-54
Fishing for a diagnosis; A family with primary infertility and two members with mental retardation and subtle facial dysmorphism is described. In the two retarded persons chromosomal rearrangements (partial monosomy of chromosome 5 and partial trisom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::c4395592da856b9524a5e3a06727d35b
https://research.rug.nl/en/publications/62b23680-3b1f-441f-90f3-2830d6acf67e
https://research.rug.nl/en/publications/62b23680-3b1f-441f-90f3-2830d6acf67e