부산대학교 도서관

Cook CB; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; Armstrong L; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada V5Z 4H4.; Boerkoel CF; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; Clarke LA; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; du Souich C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada V5Z 4H4.; Demos MK; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada V6H 0B3.; Gibson WT; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada V5Z 4H4.; Gill H; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; Lopez E; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; Patel MS; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; Selby K; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada V6H 0B3.; Abu-Sharar Z; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada V6H 0B3.; Elliott AM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada V5Z 4H4.; Women's Health Research Institute, Vancouver, British Columbia, Canada V6H 2N9.; Friedman JM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada V6H 3N1.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada V5Z 4H4.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud 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

Clapham KR; Yu TW; Ganesh VS; Barry B; Chan Y; Mei D; Parrini E; Funalot B; Dupuis L; Nezarati MM; du Souich C; van Karnebeek C; Guerrini R; Walsh CA; Clapham, K R; Yu, T W; Ganesh, V S; Barry, B; Chan, Y; Mei, D

Neurology. 1/24/2012, Vol. 78 Issue 4, p269-278. 10p.

Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, Canada. alison.elliott@cw.bc.ca.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada. alison.elliott@cw.bc.ca.; du Souich C; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Guella I; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.; Evans DM; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.; Candido T; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.; Tooman L; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.; Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Clarke L; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Gibson W; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Gill H; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Lavoie PM; Division of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.; Lewis S; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; McKinnon ML; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Nikkel SM; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Patel M; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Solimano A; Division of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.; Synnes A; Division of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.; Ting J; Division of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.; van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Christilaw J; Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, Canada.; Farrer MJ; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, 4500 Oak Street, Vancouver, British Columbia, V6H 3N1, Canada.; Osiovich H; Division of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Chin HL; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada; Khoo Teck Puat-National University Children's Medical Institute, National University Hospital, Singapore, Singapore.; Gazzaz N; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada; Department of Pediatrics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Huynh S; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.; Handra I; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.; Warnock L; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.; Moller-Hansen A; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.; Boerkoel P; MD Undergraduate Program, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; Jacobsen JOB; William Harvey Research Institute, Barts & The London School of Medicine & Dentistry, Queen Mary University of London, London, United Kingdom.; du Souich C; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.; Zhang N; Breakthrough Genomics, Irvine, CA.; Shefchek K; Oregon Clinical and Translational Science Institute, Oregon Health & Science University, Portland, OR.; Prentice LM; Provincial Laboratory Medicine Services, Provincial Health Services Authority, Vancouver, British Columbia, Canada.; Washington N; Helix, San Mateo, CA.; Haendel M; Oregon Clinical and Translational Science Institute, Oregon Health & Science University, Portland, OR.; Armstrong L; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.; Clarke L; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.; Li WL; Breakthrough Genomics, Irvine, CA.; Smedley D; William Harvey Research Institute, Barts & The London School of Medicine & Dentistry, Queen Mary University of London, London, United Kingdom.; Robinson PN; Jackson Laboratory for Genomic Medicine, Farmington, CT.; Boerkoel CF; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada; Provincial Medical Genetics Program, Women's Hospital of British Columbia, Vancouver, British Columbia, Canada. Electronic address: cboerkoel@gmail.com.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Women's Health Research Institute, Vancouver, BC, Canada.; Adam S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; du Souich C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Nelson TN; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.; van Karnebeek C; Department of Pediatrics, Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.; Department of Pediatrics, Emma Children's Hospital, Amsterdam, University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Alderman E; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Aubertin G; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Blood K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Boelman C; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Boerkoel C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Bretherick K; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.; Brown L; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.; Chijiwa C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Clarke L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Couse M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Creighton S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Watts-Dickens A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Gill H; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Tarailo-Graovac M; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Hamilton S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Heran H; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Horvath G; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Huang L; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.; Hulait GK; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Koehn D; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Lee HK; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Lewis S; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Lopez E; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Louie K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Niederhoffer K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Matthews A; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.; Meagher K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Peng JJ; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Race S; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Richmond P; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Rupps R; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Salvarinova R; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Seath K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Selby K; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Stockler S; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Tang K; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Tyson C; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and Women's Hospitals, Vancouver, BC, Canada.; van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Wasserman W; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Pediatrics, Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.; Mwenifumbo J; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE

Myers A; Department of Pediatrics, University of South Dakota and Sanford Health, Sioux Falls, South Dakota.; du Souich C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.; Yang CL; Division of Respiratory Medicine, Department of Pediatrics, University of British Columbia, and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.; Borovik L; Department of Genetic Counseling, Sanford Health, Sioux Falls, South Dakota.; Mwenifumbo J; BC Children's Hospital Research Institute, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.; Rupps R; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.; Study C; BC Children's Hospital Research Institute, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.; Boerkoel CF; Department of Pediatrics, University of South Dakota and Sanford Health, Sioux Falls, South Dakota.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Children's and Women's Health Centre of British Columbia, 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

Liang NSY; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Adam S; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Elliott AM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Women's Health Research Institute, Vancouver, BC, Canada.; Siemens A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; du Souich C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Friedman JM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Birch P; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Cook CB; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Dragojlovic N; Collaboration for Outcomes Research and Evaluation (CORE), Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.; Siemens A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Adam S; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; du Souich C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; van Karnebeek C; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands.; Lehman A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Nelson TN; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC, Canada.; Friedman J; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Lynd LD; Collaboration for Outcomes Research and Evaluation (CORE), Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada; Centre for Health Evaluation and Outcomes Sciences (CHEOS), Providence Health Research Institute, Vancouver, BC, Canada.; Elliott AM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Women's Health Research Institute, Vancouver, BC, Canada. Electronic address: aelliott@bcchr.ca.

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

Valkanas E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; Schaffer K; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; Dunham C; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.; Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; du Souich C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; Rupps R; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; Baradaran-Heravi A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; Flynn E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; Malicdan MC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; NHGRI, National Institutes of Health, Bethesda, Maryland.; Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, 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

Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Pusey BN; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Cherukuri PF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Atkins P; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; du Souich C; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; Rupps R; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; Limbos M; Sunny Hill Health Centre for Children, Vancouver, BC, Canada.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Bhatt SS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Eydoux P; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.; Links AE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Lehman A; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; Malicdan MC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Mason CE; Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, USA.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, New York, NY, USA.; The Feil Family Brain and Mind Research Institute (BMRI), New York, NY, USA.; Morimoto M; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Sear A; Department of General Practice, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Van Karnebeek C; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.; Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; NHGRI, National Institutes of Health, Bethesda, MD, USA.; Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. cboerkoel@gmail.com.; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada. cboerkoel@gmail.com.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada. cboerkoel@gmail.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Hemati P; Child and Family Research Institute, Vancouver, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; du Souich C; Boerkoel CF

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

Tzeng M; NIH Undiagnosed Diseases Program, Common Fund, NIH Office of the Director and NHGRI, Bethesda, Maryland.; du Souich C; Cheung HW; Boerkoel CF

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

Lehman AM; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; du Souich C; Chai D; Eydoux P; Huang JL; Fok AK; Avila L; Swingland J; Delaney AD; McGillivray B; Goldowitz D; Argiropoulos B; Kobor MS; Boerkoel CF

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

Smith EE; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; du Souich C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Dragojlovic N; Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.; Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; BC Women's Health Research Institute, Vancouver, BC, Canada.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Chou A; Boerkoel C; du Souich C; Rupps R

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

Kovac I; Garabedian B; Du Souich C; Palmour RM

Journal of Communication Disorders (J COMMUN DISORD), 2001 Jul-Aug; 34(4): 339-370. (20p)

Dragojlovic N; Collaboration for Outcomes Research and Evaluation (CORE), Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada.; Elliott AM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Adam S; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; van Karnebeek C; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.; Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.; Lehman A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Mwenifumbo JC; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.; Nelson TN; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, British Columbia, Canada.; du Souich C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Friedman JM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Lynd LD; Collaboration for Outcomes Research and Evaluation (CORE), Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada. larry.lynd@ubc.ca.; Centre for Health Evaluation and Outcomes Sciences, Providence Health Research Institute, Vancouver, British Columbia, Canada. larry.lynd@ubc.ca.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Elliott AM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; du Souich C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Adam S; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Dragojlovic N; Collaboration for Outcomes Research and Evaluation (CORE), Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.; van Karnebeek C; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada.; Department of Pediatrics, Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.; Nelson TN; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC, Canada.; Lehman A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Lynd LD; Collaboration for Outcomes Research and Evaluation (CORE), Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.; CHEOS - Centre for Health Evaluation and Outcomes Sciences, Providence Health Research Institute, Vancouver, BC, Canada.; Friedman JM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med

Buck A; Department of Pediatrics, Hannover Medical School, Hannover, Germany.; du Souich C; Boerkoel CF

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