부산대학교 도서관

Pugash D; Oh T; Godwin K; Robinson AJ; Byrne A; Van Allen MI; Osiovich H; Pugash, D; Oh, T; Godwin, K; Robinson, A J; Byrne, A; Van Allen, M I; Osiovich, H

Ultrasound in Obstetrics & Gynecology. Nov2011, Vol. 38 Issue 5, p598-602. 5p.

De Wals P; Tairou F; Van Allen MI; Uh S; Lowry RB; Sibbald B; Evans JA; Van den Hof MC; Zimmer P; Crowley M; Fernandez B; Lee NS; Niyonsenga T

New England Journal of Medicine. 7/12/2007, Vol. 357 Issue 2, p135-142. 8p.

Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Cox SG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Marchione D; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Joiner EF; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.; Wilson K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Janssen K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Nair D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Wierenga KJ; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Wadley A; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA.; van de Kamp J; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.; Grebe T; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Dean J; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.; Ross A; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.; Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA.; Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.; Manwaring L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.; Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Nava C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Afenjar A; Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany.; Wagner M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Catarino CB; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.; Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Schuette JL; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.; Innis JW; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.; Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Lüttgen S; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.; Strom TM; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Monaghan KG; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Yuan ZF; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Bend R; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lee JA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Hoefele J; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Günthner R; Department of Nephrology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.; Reutter H; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Radtke K; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Mrokse C; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Helbig KL; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Odent S; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France.; Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Bezieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Kury S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Redon R; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute, Cambridge, MA 02142, USA.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Ilves P; Radiology Department of Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Innes AM; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H8L1, Canada.; Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Costain G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Meyn MS; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA.; Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.; Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Kitson H; Department of Pediatrics, University of British Columbia, Vancouver, Canada.; Martin MG; Division of Gastroenterology and Nutrition, Department of Pediatrics, Mattel Children's Hospital, Los Angeles, CA 90095, USA.; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Palmer CGS; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Papp JC; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Parker NH; David Geffen School of Medicine, Los Angeles, CA 90095, USA.; Sinsheimer JS; Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Vilain E; Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA.; Wan J; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Yoon AJ; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Zheng A; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA.; Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy.; Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Carli D; Department of Public Health and Pediatrics, University of Torino, Turin, Italy.; Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Thomas JM; Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Umana L; Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Weiss MM; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.; Gotway G; Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Stuurman KE; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Vøllo A; Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Laulund LW; H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Byler M; SUNY Upstate Medical University, Syracuse, NY 13210, USA.; Lebel RR; SUNY Upstate Medical University, Syracuse, NY 13210, USA.; Hurst AC; University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Dean J; University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA.; Norman J; INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Neira J; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.; Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada.; Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.; Sellars E; University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Cathey SS; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Brokamp E; Vanderbilt University, Nashville, TN 37203, USA.; Heron D; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Snyder M; Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Simon C; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.; de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.; Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Crump JG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Chung W; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.; Garcia B; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Hakonarson HH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. bhoje@email.chop.edu.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Nabais Sá MJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; El Tekle G; Functional Cancer Genomics, Institute of Oncology Research, 6500 Bellinzona, Switzerland; Faculty of Biomedical Science, Università della Svizzera Italiana, 6900 Lugano, Switzerland; University of Lausanne, 1015 Lausanne, Switzerland.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Del Gaudio D; Molecular Diagnostic Laboratory, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.; Parker MJ; Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK.; Kanani F; Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK.; van den Boogaard MH; Department of Genetics, UMC Utrecht, 3584 CX Utrecht, the Netherlands.; van Gassen K; Department of Genetics, UMC Utrecht, 3584 CX Utrecht, the Netherlands.; Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Wierenga K; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.; Purcarin G; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.; Elias ER; Special Care Clinic, Children's Hospital Colorado, Aurora, CO 80011, USA; University of Colorado School of Medicine, Aurora, CO 80045, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Keller-Ramey J; GeneDx, Gaithersburg, MD 20877, USA.; Bernasocchi T; Functional Cancer Genomics, Institute of Oncology Research, 6500 Bellinzona, Switzerland; Faculty of Biomedical Science, Università della Svizzera Italiana, 6900 Lugano, Switzerland; University of Lausanne, 1015 Lausanne, Switzerland.; van de Wiel L; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Theurillat JP; Functional Cancer Genomics, Institute of Oncology Research, 6500 Bellinzona, Switzerland; Faculty of Biomedical Science, Università della Svizzera Italiana, 6900 Lugano, Switzerland. Electronic address: jean-philippe.theurillat@ior.usi.ch.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands. Electronic address: bert.devries@radboudumc.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

Cho RY; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Peñaherrera MS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Du Souich C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Huang L; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; Mwenifumbo J; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Nelson TN; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Adam S; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Eydoux P; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Yang GX; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Chijiwa C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Robinson WP; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Guella I; Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, BC, Canada.; DeGuzman C; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; McKenzie MB; Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, BC, Canada.; Buerki SE; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Division of Neuropediatrics, University Children's Hospital Zurich, Zurich, Switzerland.; Evans DM; Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, BC, Canada.; Toyota EB; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Boelman C; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Huh LL; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Datta A; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Michoulas A; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Selby K; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Bjornson BH; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Horvath G; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.; Lopez-Rangel E; Division of Developmental Pediatrics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.; van Karnebeek CDM; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BCCHRI, University of British Columbia, Vancouver, BC, Canada.; Department of Pediatrics, Academic Medical Centre, Amsterdam, Netherlands.; Salvarinova R; Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.; Slade E; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Eydoux P; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.; Adam S; Department of Medical Genetics, BC Children's and BC's Women's Hospitals, University of British Columbia, Vancouver, BC, Canada.; Van Allen MI; Department of Medical Genetics, BC Children's and BC's Women's Hospitals, University of British Columbia, Vancouver, BC, Canada.; Nelson TN; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.; Bolbocean C; University of Tennessee Health Science Center, Memphis, TN, United States.; Centre for Addiction and Mental Health, Toronto, ON, Canada.; Connolly MB; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Farrer MJ; Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, BC, Canada.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Angius A; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Uva P; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy.; Oppo M; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.; Buers I; Cells in Motion Cluster of Excellence, Münster University, Münster, Germany.; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.; Persico I; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Onano S; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.; Cuccuru G; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy.; Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Provincial Health Service Authority, B.C. Children's and Women's Health Centre, Vancouver, British Columbia, Canada.; Department of Medical Genetics, Victoria Island Health Authority, Vancouver, British Columbia, Canada.; Hulait G; Provincial Health Service Authority, B.C. Children's and Women's Health Centre, Vancouver, British Columbia, Canada.; Aubertin G; Department of Medical Genetics, Victoria Island Health Authority, Vancouver, British Columbia, Canada.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Biomedical Research Centre at Great Ormond Street Hospital, London, UK.; Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Annerén G; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.; Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.; Palomares-Bralo M; Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii, Madrid, Spain.; Santos-Simarro F; Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii, Madrid, Spain.; Cucca F; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.; Crisponi G; Clinica Sant'Anna, Cagliari, Italy.; Rutsch F; Cells in Motion Cluster of Excellence, Münster University, Münster, Germany.; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.; Crisponi L; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.

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

Jacquinet A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium. Electronic address: adeline.jacquinet@chu.ulg.ac.be.; Brown L; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.; Sawkins J; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.; Pugash D; Department of Radiology, University of British Columbia, Vancouver, Canada.; Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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

Horvath GA; 1 Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.; 2 BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Tarailo-Graovac M; 3 Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.; Bartel T; 4 Mission Senior Secondary School, Mission, British Columbia, Canada.; Race S; 1 Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.; Van Allen MI; 2 BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; 5 Department of Medical Genetics, University of British Columbia, BC Children's and Women's Hospital, Vancouver, British Columbia, Canada.; Blydt-Hansen I; 2 BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; 6 Queens University, Kingston, Ontario, Canada.; Ross CJ; 2 BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; 7 Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada.; Wasserman WW; 2 BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; 3 Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.; Connolly MB; 8 Division of Pediatric Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.; van Karnebeek CDM; 2 BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; 3 Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Ponzo MG; 1 Department of Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada.; Van Allen MI; 2 Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Armstrong L; 2 Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Martinka M; 3 Department of Pathology and Laboratory Medicine and Department of Dermatology and Skin Science, University of British Columbia, Vancouver, Canada.; Dutz JP; 1 Department of Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada.; 4 Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.

Publisher: Sage Publications Country of Publication: United States NLM ID: 9614685 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-7109 (Electronic) Linking ISSN: 12034754 NLM ISO Abbreviation: J Cutan Med Surg Subsets: MEDLINE