학술논문


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'학술논문' 에서 검색결과 90건 | 목록 1~20
Academic Journal
American Journal of Human Genetics, 102, 5, pp. 985-994
The American journal of human genetics
Kerr, B & et, A 2018, 'Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2018.03.004
Academic Journal
Mulder PA; Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.; van Balkom IDC; Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, Netherlands.; Landlust AM; Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.; Priolo M; Unità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.; Menke LA; Department of Paediatrics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Acero IH; Genetics Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.; Alkuraya FS; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, and Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Arias P; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Bernardini L; Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.; Cole T; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Coubes C; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.; Dapia I; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Davies S; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.; Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul and Eastern Mediterranean University, Mersin, Turkey.; Fahrner JA; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Foster A; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; González NG; Unit Hospital Universitario Central de Asturias, Oviedo, Spain.; Huber I; Sørland Hospital, Kristiansand, Norway.; Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy.; Kaiser AS; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Kamath A; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Kooblall K; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Lapunzina P; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Liebelt J; South Australian Clinical Genetics Services, Women's and Children's Hospital, North Adelaide, Australia.; Lynch SA; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.; Maas SM; Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands.; Mammì C; Unità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.; Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands.; McKee S; Northern Ireland Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, UK.; Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, and Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Montgomery T; Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.; Neubauer D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Neumann TE; Mitteldeutscher Praxisverbund Humangenetik, Halle, Germany.; Pintomalli L; Unità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.; Pisanti MA; Medical Genetic and Laboratory Unit, 'Antonio Cardarelli' Hospital, Naples, Italy.; Plomp AS; Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands.; Price S; Department of Clinical Genetics, Northampton General Hospital NHS Trust, Northampton, UK.; Salter C; Wessex Clinical Genetics Service, Princess Ann Hospital, Southampton, UK.; Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Sarda P; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.; Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Segovia M; CENAGEM, Centro Nacional de Genética, Buenos Aires, Argentina.; Shaw-Smith C; Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Smithson S; University Hospitals Bristol NHS Trust, Bristol, UK.; Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Tatton-Brown K; Division of Genetics and Epidemiology, Institute of Cancer Research, London and South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, UK.; Tenorio J; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Thakker RV; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Valdez RM; Genetics Unit, Hospital Militar Central 'Cirujano Mayor Dr. Cosme Argerich', Buenos Aires, Argentina.; Van Haeringen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.; Van Hagen JM; Department of Clinical Genetics, VU University Medical Centre, Amsterdam, Netherlands.; Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Zollino M; Department of Laboratory Medicine, Institute of Medical Genetics, Catholic University, Rome, Italy.; Dunn WW; Department of Occupational Therapy Education, School of Health Professions, University of Missouri, Columbia, MO, USA.; Piening S; Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, Netherlands.; Hennekam RC; Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.; Department of Paediatrics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE
Academic Journal
van der Werf-'t Lam AS; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address: asvanderwerf-tlam@lumc.nl.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.; Rinnen T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.; Robles de Medina RM; Department of Cardiology, Haga Teaching Hospital, The Hague, the Netherlands.; Wilde AAM; Department of Cardiology, Amsterdam University Medical Centre, Amsterdam, the Netherlands.; Hennekam RC; Department of Paediatrics, Amsterdam University Medical Centre, Amsterdam, the Netherlands.; Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
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
Academic Journal
Kelmemi W; Laboratory of Human Genetics, Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia.; Teeuw ME; Department of Clinical Genetics, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; EMGO Institute for Health and Care Research, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; Bochdanovits Z; Department of Clinical Genetics, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; Ouburg S; Laboratory of Immunogenetics, Medical Microbiology and Infection Control, Research School V-ICI, VU University Medical Center, Amsterdam, The Netherlands.; Jonker MA; Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, The Netherlands.; Alkuraya F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Juliana Children's Hospital, Hague, The Netherlands.; Sheridan E; Bradford Institute for Health Research, Bradford Royal Infirmary, Bradford, UK.; Department of Genetics, Wellcome Trust Brenner Building, St James's University Hospital, Leeds, UK.; Masri A; Division of Child Neurology, Department of Pediatrics, University of Jordan, Amman, Jordan.; Cobben JM; Department of Pediatric Genetics, AMC University Hospital, Amsterdam, The Netherlands.; Rizzu P; Department of Clinical Genetics, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; Genome Biology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases, Tübingen, Germany.; Kostense PJ; Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, The Netherlands.; Dommering CJ; Department of Clinical Genetics, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; Henneman L; Department of Clinical Genetics, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; EMGO Institute for Health and Care Research, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; Bouhamed-Chaabouni H; Laboratory of Human Genetics, Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia.; Heutink P; Department of Clinical Genetics, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; Genome Biology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases, Tübingen, Germany.; Ten Kate LP; Department of Clinical Genetics, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; EMGO Institute for Health and Care Research, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.; Cornel MC; Department of Clinical Genetics, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands. mc.cornel@vumc.nl.; EMGO Institute for Health and Care Research, VU University Medical Center, Mail BS7, D450, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands. mc.cornel@vumc.nl.
Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE
Academic Journal
Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. hilhorst@lumc.nl; Scholte AJRijlaarsdam MEvan Haeringen AKroft LJReijnierse MRuivenkamp CAVersteegh MIPals GBreuning MH
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
Academic Journal
Gijsbers AC; Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; van Haeringen ABosch CAHansson KVerschuren MBakker EBreuning MHRuivenkamp CA
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE
Academic Journal
Martin R; Institute of Genetic Medicine, Newcastle upon Tyne, England. richard.martin11@nhs.net.; Splitt M; Institute of Genetic Medicine, Newcastle upon Tyne, England.; Genevieve D; Medical Genetics Department, Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France.; Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Collins A; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.; de Bie CI; Division Biomedical Genetics, Genetics Department, University Medical Center Utrecht, Utrecht, Netherlands.; Faivre L; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.; Foulds N; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.; Giltay J; Division Biomedical Genetics, Genetics Department, University Medical Center Utrecht, Utrecht, Netherlands.; Ibitoye R; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.; Joss S; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland.; Kennedy J; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.; Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, England.; Kivuva E; Peninsula Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, England.; Koopmans M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Newbury-Ecob R; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.; Jean-Marçais N; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.; Peeters EAJ; Department of Child Neurology, HAGA/Juliana Children's Hospital, The Hague, Netherlands.; Smithson S; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.; Tomkins S; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.; Tranmauthem F; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.; Piton A; Lab. de diagnostic génétique des HUS, Strasbourg, France.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Riedijk SR; Department of Clinical Genetics, Erasmus Medical Centre, The Netherlands. s.riedijk@erasmusmc.nl; de Snoo FAvan Dijk SBergman Wvan Haeringen ASilberg Svan Elderen TMTibben A
Publisher: Wiley Country of Publication: England NLM ID: 9214524 Publication Model: Print Cited Medium: Print ISSN: 1057-9249 (Print) Linking ISSN: 10579249 NLM ISO Abbreviation: Psychooncology Subsets: MEDLINE
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[AR] Van Haeringen, A
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