부산대학교 도서관

Sheppard, SE; Campbell, IM; Harr, MH; Gold, N; Li, D; Bjornsson, HT; Cohen, JS; Fahrner, JA; Fatemi, A; Harris, JR; Nowak, C; Stevens, CA; Grand, K; Au, M; Graham, JM; Sanchez-Lara, PA; Del Campo, M; Jones, MC; Abdul-Rahman, O; Alkuraya, FS; Bassetti, JA; Bergstrom, K; Bhoj, E; Dugan, S; Kaplan, JD; Derar, N; Gripp, KW; Hauser, N; Innes, AM; Keena, B; Kodra, N; Miller, R; Nelson, B; Nowaczyk, MJ; Rahbeeni, Z; Ben-Shachar, S; Shieh, JT; Slavotinek, A; Sobering, AK; Abbott, M-A; Allain, DC; Amlie-Wolf, L; Au, PYB; Bedoukian, E; Beek, G; Barry, J; Berg, J; Bernstein, JA; Cytrynbaum, C; Chung, BH-Y; Donoghue, S; Dorrani, N; Eaton, A; Flores-Daboub, JA; Dubbs, H; Felix, CA; Fong, C-T; Fung, JLF; Gangaram, B; Goldstein, A; Greenberg, R; Ha, TK; Hersh, J; Izumi, K; Kallish, S; Kravets, E; Kwok, P-Y; Jobling, RK; Johnson, AEK; Kushner, J; Lee, BH; Levin, B; Lindstrom, K; Manickam, K; Mardach, R; McCormick, E; McLeod, DR; Mentch, FD; Minks, K; Muraresku, C; Nelson, SF; Porazzi, P; Pichurin, PN; Powell-Hamilton, NN; Powis, Z; Ritter, A; Rogers, C; Rohena, L; Ronspies, C; Schroeder, A; Stark, Z; Starr, L; Stoler, J; Suwannarat, P; Velinov, M; Weksberg, R; Wilnai, Y; Zadeh, N; Zand, DJ; Falk, MJ; Hakonarson, H; Zackai, EH; Quintero-Rivera, F

Alsharhan, H; He, M; Edmondson, AC; Daniel, EJP; Chen, J; Donald, T; Bakhtiari, S; Amor, DJ; Jones, EA; Vassallo, G; Vincent, M; Cogne, B; Deb, W; Werners, AH; Jin, SC; Bilguvar, K; Christodoulou, J; Webster, RI; Yearwood, KR; Ng, BG; Freeze, HH; Kruer, MC; Li, D; Raymond, KM; Bhoj, EJ; Sobering, AK

Ohanna, M; Sobering, AK; Lapointe, T; Lorenzo, L; Praud, C; Petroulakis, E; Sonenberg, N; Kelly, PA; Sotiropoulos, A; Pende, M

NATURE CELL BIOLOGY; MAR 2005, 7 3, p286-p294, 9p.

Sobering, AK; Watanabe, R; Romeo, MJ; Yan, BC; Specht, CA; Orlean, P; Riezman, H; Levin, DE

CELL; MAY 28 2004, 117 5, p637-p648, 12p.

Sobering, AK; Romeo, MJ; Vay, HA; Levin, DE

MOLECULAR AND CELLULAR BIOLOGY; JUL 2003, 23 14, p4983-p4990, 8p.

Romeo, MJ; Angus-Hill, ML; Sobering, AK; Kamada, Y; Cairns, BR; Levin, DE

MOLECULAR AND CELLULAR BIOLOGY; DEC 2002, 22 23, p8165-p8174, 10p.

Jung, US; Sobering, AK; Romeo, MJ; Levin, DE

MOLECULAR MICROBIOLOGY; NOV 2002, 46 3, p781-p789, 9p.

Sobering, AK; Jung, US; Lee, KS; Levin, DE

EUKARYOTIC CELL; FEB 2002, 1 1, p56-p65, 10p.

Sobering, AK; Levin, DE

FASEB JOURNAL; APR 23 1999, 13 7, pA1390-pA1390, 1p. Supplement: S

Urreizti R; Clinical Biochemistry Department, Hospital Sant Joan de Déu. Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Vissicchio J; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA.; Idries M; St. George's University, Department of Biochemistry, St. George's, Grenada.; Cozar M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain.; Rabionet R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain.; Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.; Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Nomakuchi TT; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Shipley SC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Timms AE; Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.; Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Serrano M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.; Sobering AK; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA.; St. George's University, Department of Biochemistry, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.

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

Sisroe T; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA.; Santos AD; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA.; Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Gray C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Skraban CM; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada.; Tefft S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Helbig I; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Li D; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sobering AK; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA.; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.

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

van der Laan L; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Karimi K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Lauffer P; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Bhai P; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Mignot C; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Hôpital Armand Trousseau, Paris, France AND Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Keren B; APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Briuglia S; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.; Sobering AK; AU/UGA Medical Partnership Campus of the Medical College of Georgia, Athens, Georgia; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada; St. George's University School of Medicine, Department of Biochemistry, Grenada.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania Perelman school of Medicine, Philadelphia, PA.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Valenzuela I; Àrea de Genètica Clínica i Malalties Minoritàries, Hospital Vall d'Hebron, Barcelona, Spain.; Verberne EA; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Misra-Isrie M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Zwijnenburg PJG; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Waisfisz Q; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Sailer S; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Mannens MMAM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.; van Haelst MM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Henneman P; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: p.henneman@amsterdamumc.nl.

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

Maj M; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Taylor CL; Augusta University/University of Georgia Medical Partnership Campus of the Medical College of Georgia, Athens, Georgia, USA.; Landau K; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Toriello HV; Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Hakonarson H; Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Nelson B; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada.; Gluschitz S; Department of Anatomical Sciences, St. George's University School of Medicine, St. George's, Grenada.; Walker RH; Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York, USA.; Department of Neurology, Mount Sinai School of Medicine, New York City, New York, USA.; Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Department of Basic Sciences, University of Georgia Health Sciences Campus, Augusta University/University of Georgia Medical Partnership, Athens, Georgia, USA.; Windward Islands Research and Education Foundation, St. George's, Grenada.

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 Subsets: MEDLINE

Vanasse AM; Department of Biochemistry, St. George's University, St. George's, Grenada.; Department of Pediatrics, University of Oklahoma School of Community Medicine, Tulsa, Oklahoma, USA.; Weiler T; Department of Human and Molecular Genetics, Herbert Wertheim College of Medicine, Florida International University, Miami, Florida, USA.; Roth EA; AU/UGA Medical Partnership Campus of the Medical College of Georgia, Athens, Georgia, USA.; Upadhya S; Department of Biochemistry, St. George's University, St. George's, Grenada.; Toriello HV; Department of Pediatrics and Human Development, Michigan State University - College of Human Medicine, East Lansing, Michigan, USA.; VanLeuven AJ; AU/UGA Medical Partnership Campus of the Medical College of Georgia, Athens, Georgia, USA.; Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta University, Augusta, Georgia, USA.; Norris JR; AU/UGA Medical Partnership Campus of the Medical College of Georgia, Athens, Georgia, USA.; Carey JC; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Sobering AK; Department of Biochemistry, St. George's University, St. George's, Grenada.; AU/UGA Medical Partnership Campus of the Medical College of Georgia, Athens, Georgia, USA.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.

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

Sobering AK; Bryant LM; Li D; McGaughran J; Maystadt I; Moortgat S; Graham JM Jr; van Haeringen A; Ruivenkamp C; Cuperus R; Vogt J; Morton J; Brasch-Andersen C; Steenhof M; Hansen LK; Adler É; Lyonnet S; Pingault V; Sandrine M; Ziegler A; Donald T; Nelson B; Holt B; Petryna O; Firth H; McWalter K; Zyskind J; Telegrafi A; Juusola J; Person R; Bamshad MJ; Earl D; Chun-Hui Tsai A; Yearwood KR; Marco E; Nowak C; Douglas J; Hakonarson H; Bhoj EJ

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

Verdi G; Department of Biochemistry, St. George's University School of Medicine, True Blue, Grenada.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, True Blue, Grenada.; Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Yearwood KR; St. George's University Clinic, St. George's, Grenada.; Upadhya S; Department of Biochemistry, St. George's University School of Medicine, True Blue, Grenada.; Gluschitz S; Department of Anatomical Sciences, St. George's University, True Blue, Grenada.; Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Sobering AK; Department of Biochemistry, St. George's University School of Medicine, True Blue, Grenada.; AU/UGA Medical Partnership, Athens, Georgia, USA.; Windward Islands Research and Education Foundation, St. George's, Grenada.

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 Subsets: MEDLINE

Sobering AK; AU/UGA Medical Partnership, Department of Basic Sciences, University of Georgia Health Sciences Campus, Athens, GA 30602, USA.; St. George's University, Department of Biochemistry, St. George's, Grenada, West Indies.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada, West Indies.; Bryant LM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; McGaughran J; Genetic Health Queensland, RBWH, Brisbane and The University of Queensland School of Medicine, Brisbane, QLD 4029, Australia.; Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.; Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.; Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA.; van Haeringen A; Leiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands.; Ruivenkamp C; Leiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands.; Cuperus R; Juliana Children's Hospital, HAGA Medical Center, The Hague, the Netherlands.; Vogt J; Birmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK.; Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.; Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense 5000, Denmark.; Steenhof M; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark.; Hansen LK; Department of Paediatrics, Odense University Hospital, Odense 5000, Denmark.; Adler É; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.; Lyonnet S; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.; Pingault V; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.; Sandrine M; Reference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.; Ziegler A; Reference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.; Donald T; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies.; Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies.; Holt B; Department of Anatomical Sciences, St. George's University, Grenada, West Indies.; Petryna O; Hackensack University Ocean Medical Center, Department of Psychiatry, Hackensack, NJ 08724, USA.; Firth H; Department of Clinical Genetics, Cambridge University Hospitals, Box 134, Cambridge CB2 0QQ, UK.; McWalter K; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.; Zyskind J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.; Telegrafi A; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.; Juusola J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.; Person R; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.; Bamshad MJ; Seattle Children's Hospital, Seattle, WA 98105, USA.; Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA.; Earl D; Seattle Children's Hospital, Seattle, WA 98105, USA.; Tsai AC; University of Oklahoma, Section of Genetics, 800 Stanton L Young Boulevard, Oklahoma City, OK 73117, USA.; Yearwood KR; University Health Services, St. George's University, Grenada, West Indies.; Marco E; Cortica Healthcare, Marin Center, 4000 Civic Center Dr, Ste 100, San Rafael, CA 94903, USA.; Nowak C; Boston Children's Hospital, Division of Genetics and Genomics, 60 Temple Place, 2nd Floor, Boston, MA 02111, USA.; Douglas J; Boston Children's Hospital, Division of Genetics and Genomics, 60 Temple Place, 2nd Floor, Boston, MA 02111, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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

Bordes SJ; Department of Biochemistry, St. George's University , St. George's, Grenada.; Walker D; Department of Educational Services, St. George's University , St. George's, Grenada.; Modica LJ; Department of Educational Services, St. George's University , St. George's, Grenada.; Buckland J; Department of Educational Services, St. George's University , St. George's, Grenada.; Sobering AK; Department of Biochemistry, St. George's University , St. George's, Grenada.

Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9806550 Publication Model: Print Cited Medium: Internet ISSN: 1087-2981 (Electronic) Linking ISSN: 10872981 NLM ISO Abbreviation: Med Educ Online Subsets: MEDLINE

Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.; Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.; Alkuraya FS; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Amemiya AR; Computercraft Corporation, McLean, VA 20005, USA.; Bamshad MJ; Department of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.; Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA.; Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.; Bird LM; Department of Pediatrics, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA.; Carey JC; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.; Chung B; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China.; Clark RD; Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, USA.; Cox TC; Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.; Curry C; Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA.; Dinulos MBP; The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.; Dobyns WB; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.; Giampietro PF; University of Illinois College of Medicine, Chicago, IL 60612, USA.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Glass IA; Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.; Graham JM Jr; Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.; Gripp KW; Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA.; Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC 28803, USA.; Hall BD; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.; Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Keppler-Noreuil KM; Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA.; Kosaki K; Keio University School of Medicine, Tokyo 160-8582, Japan.; Kozel BA; Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Mirzaa GM; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.; Mulvihill JJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA.; Nowaczyk MJM; Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada.; Pagon RA; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.; Retterer K; GeneDx, Gaithersburg, MD 20877, USA.; Rope AF; Genome Medical, South San Francisco, CA 94080, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA.; Seaver LH; Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA.; Shieh JT; Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.; Slavotinek AM; Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.; Sobering AK; Augusta University/University of Georgia Athens, Medical Partnership, Athens, GA 30606, USA.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.; Tsai AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.; Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA.; Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.; Zackai E; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.; Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

Alsharhan H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Daniel EJP; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Chen J; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.; Clinical Teaching Unit, St. George's University, St. George's, Grenada.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA.; Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Jones EA; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Vassallo G; Department of Pediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation Trust, Manchester, UK.; Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France.; Cogné B; Service de génétique médicale, CHU de Nantes, Nantes, France.; Deb W; Service de génétique médicale, CHU de Nantes, Nantes, France.; Werners AH; Department of Anatomy, Physiology and Pharmacology, St. George University School of Veterinary Medicine, St. George's, Grenada.; Jin SC; Department of Genetics and Pediatrics, Washington University, St. Louis, Missouri, USA.; Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.; Webster RI; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Yearwood KR; St. George's University, University Health Services, St. George's, Grenada.; Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA.; Li D; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE