부산대학교 도서관

Abadie, V; Bohorquez, D; Bulstrode, NW; Davies, G; Hakelius, M; Ong, J; Mathijssen, IMJ; Matos, E; Mazzoleni, F; van der Molen, AM; Muradin, M; Neovius, E; Piacentile, K; Redondo, M; Vuola, P; Wolvius, EB; Reinert, S; Murray, D; Peterson, P; Hens, G; Schachner, P; Sivertsen, A; Irvine, WFE; Welling-van Overveld, LFJ; van Breugel, M; van Schalkwijk, K; Verhey, E; Khan, A; Baillie, L; Bishop, N; Hillyar, CRT; Koudstaal, MJ; van de Lande, L; Nibber, A; Panciewicz, N; Ramjeeawan, A; Bouter, A; El Ghoul, K; Logjes, B; van der Plas, P; Kats, J; Weissbach, E; van Veen-van der Hoek, M; Bittermann, AJN; van den Boogaard, MJH; Coenraad, S; Dulfer, K; Joosten, K; Lachmeijer, AMA; Muradin, MSM; Peters, NCJ; Pleumeekers, M; de Veye, HS

The Journal of craniofacial surgery. 35(1):279-361

Wurfbain LF; Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Cox IL; Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lachmeijer AMA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Verhoeven VJM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Hagen JM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Heijligers M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Klein Wassink-Ruiter JS; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Koene S; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Maas SM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Veenstra-Knol HE; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Ploos van Amstel JK; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Massink MPG; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Mink van der Molen AB; Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

van Mierlo HC; De Wit LE; van Griensven JMT; Lachmeijer AMA

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9808943 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4112 (Electronic) Linking ISSN: 10950680 NLM ISO Abbreviation: J ECT Subsets: MEDLINE

Douben HCW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Nellist M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Unen L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Elfferich P; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kasteleijn E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Louwen J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Veghel-Plandsoen M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; de Valk W; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Saris JJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hendriks F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Korpershoek E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Vliet M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van de Laar I; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Lachmeijer AMA; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Taal W; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; van den Bersselaar L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Schuurmans J; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Oostenbrink R; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of General Pediatrics, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; van Ierland Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford School of Medicine, Stanford, CA, USA.; Muriello M; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.; Syverson E; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.; Bonner D; Department of Pediatrics, Division of Medical Genetics, Stanford School of Medicine, Stanford, CA, USA.; Estiar MA; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Gan-Or Z; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada.; Rouleau GA; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada; Department of Neurology & Neurosurgery, McGill University, Montreal, QC, Canada.; Lyulcheva E; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Greenhalgh L; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Tessarech M; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.; Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.; Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.; Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Lachmeijer AMA; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Ruaud L; INSERM UMR1141, Neurodiderot, University of Paris, 75019 Paris, France; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France.; Levy J; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France.; Tabet AC; APHP.Nord, Robert Debré University Hospital, Department of Genetics, 75019 Paris, France.; Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Kępczyński Ł; Department of Genetics, Polish Mother's Memorial Hospital - Research Institute, Łódź, Poland.; Połatyńska K; Department of Developmental Neurology an Epileptology, Polish Mother's Memorial Hospital - Research Institute, Łódź, Poland.; Li Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Hobson GM; Department of Research, Nemours Children's Health, Wilmington, DE, USA.; Hunter JV; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA; Departments of Ophthalmology and Visual Sciences and Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: esemina@mcw.edu.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: jlupski@bcm.edu.

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

Dekker, GA; Tubbergen, P; Valk, M; Althuisius; Lachmeijer, AMA

American Journal of Obstetrics and Gynecology. Jan 01, 1998 178(1S Suppl):120S-120S

White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia. Electronic address: sue.white@vcgs.org.au.; Bhoj E; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Nellåker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford OX3 9DU, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.; Lachmeijer AMA; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, the Netherlands.; Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Li D; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Smith W; Division of Genetics, Department of Paediatrics, Maine Medical Center, Portland, ME 04012, USA.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; McBride A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA.; May AS; Division of Child Neurology, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.; Wieczorek D; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf 40225, Germany.; Abou Jamra R; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany.; Koch-Hogrebe M; Vestische Kinder- und Jugendklinik Datteln, Universität Witten-Herdecke, Datteln 45711, Germany.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, L. Puusepa 2, 51014 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, L. Puusepa 2, 51014 Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, L. Puusepa 2, 51014 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, L. Puusepa 2, 51014 Tartu, Estonia.; van Gassen KLI; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, the Netherlands.; Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 01242, USA.; Ellingwood S; Division of Genetics, Department of Paediatrics, Maine Medical Center, Portland, ME 04012, USA.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Barea J; Rady Children's Specialists of San Diego, San Diego, CA 92123, USA.; Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Nezarati MM; North York General Hospital, Toronto, ON M2K 1E1, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Newborn Screening Ontario, Ottawa, ON K1H 8L1, Canada.

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

Snijders Blok L; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands. Electronic address: lot.snijdersblok@radboudumc.nl.; Kleefstra T; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands.; Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands.; Maas S; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Kroes HY; Department of Genetics, University Medical Center Utrecht, PO Box 85090, 3508AB Utrecht, the Netherlands.; Lachmeijer AMA; Department of Genetics, University Medical Center Utrecht, PO Box 85090, 3508AB Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, PO Box 85090, 3508AB Utrecht, the Netherlands.; Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Tomkins S; Clinical Genetics Service, University Hospitals Bristol National Health Service Foundation Trust, Bristol BS2 8HW, UK.; Bodek S; Clinical Genetics Service, University Hospitals Bristol National Health Service Foundation Trust, Bristol BS2 8HW, UK.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia.; Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Newborn Medicine, Division of Genetics, Boston Children's Hospital, Boston, MA 02115, USA.; Cunniff C; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10021, USA.; Bergstrom K; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10021, USA.; Powis Z; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Tang S; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Shinde DN; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Au C; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY 10032, USA.; Iglesias AD; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY 10032, USA.; Izumi K; Division of Human Genetics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Leonard J; Division of Human Genetics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Abou Tayoun A; Division of Genomic Diagnostics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Baker SW; Division of Genomic Diagnostics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00146 Rome, Italy.; Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00146 Rome, Italy.; Dentici ML; Genetics and Rare Diseases Research Division, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00146 Rome, Italy.; Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Vitobello A; UF Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire Dijon Bourgogne, 21000 Dijon, France; INSERM UMR1231 Génétique des Anomalies du Développement, F-21000 Dijon, France.; Faivre L; INSERM UMR1231 Génétique des Anomalies du Développement, F-21000 Dijon, France; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Centre de Génétique, Hôpital d'Enfants, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon Bourgogne, 21000 Dijon, France.; Philippe C; UF Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire Dijon Bourgogne, 21000 Dijon, France; INSERM UMR1231 Génétique des Anomalies du Développement, F-21000 Dijon, France.; Gilissen C; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands.; Wiel L; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands.; Pfundt R; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands.; Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands.; Brunner HG; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202AZ Maastricht, the Netherlands.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands. Electronic address: simon.fisher@mpi.nl.

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

Perdu, B; Lakeman, P; Mortier, G; Koenig, R; Lachmeijer, AMA; Van Hul, W

Clinical Genetics; Oct2011, Vol. 80 Issue 4, p383-388, 6p, 2 Black and White Photographs, 1 Diagram, 2 Charts

Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand.; Asadollahi R; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - 'Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich,' 8032 Zurich, Switzerland.; Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - 'Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich,' 8032 Zurich, Switzerland.; Battaglia A; Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, 56128 Calambrone, Pisa, Italy.; Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Boonsawat P; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - 'Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich,' 8032 Zurich, Switzerland.; Bruel AL; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France.; Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.; Cogné B; Department of Medical Genetics, CHU Nantes, 44093 Nantes, France; l'Institut du Thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.; Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Düsseldorf, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany.; Elmslie F; South West Thames Regional Genetics Service, St. George's, University of London, London SW17 0RE, UK.; Faivre L; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.; Henderson A; Northern Genetics Service, Newcastle upon Tyne Hospitals, Newcastle upon Tyne NE1 3BZ, UK.; Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.; Isidor B; Department of Medical Genetics, CHU Nantes, 44093 Nantes, France.; Joset P; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - 'Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich,' 8032 Zurich, Switzerland.; Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo 183-0042, Japan.; Lachmeijer AMA; Department of Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, the Netherlands.; Lees M; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London WC1N 3JH, UK.; Lynch SA; Dept of Clinical Genetics, Temple Street Children's Hospital Dublin 1, D12 V004 Dublin, Ireland.; Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avda Fernando Abril Martorell 106, 46026 Valencia, Spain.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; McDougall C; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France.; Nesbitt A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Novelli A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.; Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avda Fernando Abril Martorell 106, 46026 Valencia, Spain.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - 'Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich,' 8032 Zurich, Switzerland.; Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avda Fernando Abril Martorell 106, 46026 Valencia, Spain.; Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Santani AB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Sarkar A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.; Scheffer IE; Departments of Medicine and Paediatrics, Austin Health and Royal Children's Hospital, The University of Melbourne, Parkville, VIC 3050, Australia.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - 'Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich,' 8032 Zurich, Switzerland.; Symonds JD; Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Children, Glasgow G51 4TF, UK.; Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address: christiane.zweier@uk-erlangen.de.

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