부산대학교 도서관

Vilboux, Thierry; Malicdan, May Christine V; Chang, Yun Min; Guo, Jennifer; Zerfas, Patricia M; Stephen, Joshi; Cullinane, Andrew R; Bryant, Joy; Fischer, Roxanne; Brooks, Brian P; Zein, Wadih M; Wiggs, Edythe A; Zalewski, Christopher K; Poretti, Andrea; Bryan, Melanie M; Vemulapalli, Meghana; Mullikin, James C; Kirby, Martha; Anderson, Stacie M; Huizing, Marjan; Toro, Camilo; Gahl, William A; Gunay-Aygun, Meral

Journal of Medical Genetics. May 01, 2016 53(5):318-329

Cullinane, Andrew R; Vilboux, Thierry; O'Brien, Kevin; Curry, James A; Maynard, Dawn M; Carlson-Donohoe, Hannah; Ciccone, Carla; Markello, Thomas C; Gunay-Aygun, Meral; Huizing, Marjan; Gahl, William A; NISC Comparative Sequencing Program

Journal of Investigative Dermatology. Oct2011, Vol. 131 Issue 10, p2017-2025. 9p.

Smith, Holly; Galmes, Romain; Gogolina, Ekaterina; Straatman-Iwanowska, Anna; Reay, Kim; Banushi, Blerida; Bruce, Christopher K; Cullinane, Andrew R; Romero, Rene; Chang, Richard; Ackermann, Oanez; Baumann, Clarisse; Cangul, Hakan; Cakmak Celik, Fatma; Aygun, Canan; Coward, Richard; Dionisi-Vici, Carlo; Sibbles, Barbara; Inward, Carol; Ae Kim, Chong; Klumperman, Judith; Knisely, A S; Watson, Steven P; Gissen, Paul

Hum Mutat

Cullinane, Andrew R; Straatman-Iwanowska, Anna; Zaucker, Andreas; Wakabayashi, Yoshiyuki; Bruce, Christopher K; Luo, Guanmei; Rahman, Fatimah; Gürakan, Figen; Utine, Eda; Özkan, Tanju B; Denecke, Jonas; Vukovic, Jurica; Rocco, Maja Di; Mandel, Hanna; Cangul, Hakan; Matthews, Randolph P; Thomas, Steve G; Rappoport, Joshua Z; Arias, Irwin M; Wolburg, Hartwig

Nature Genetics. Mar2011, Vol. 43 Issue 3, p277-277. 1p.

Vilboux T; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Inova Translational Medicine Institute, Falls Church, Virginia.; Malicdan MC; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.; Roney JC; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Cullinane AR; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Department of Anatomy, Howard University College of Medicine, Washington DC.; Stephen J; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Yildirimli D; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Bryant J; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Fischer R; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Vemulapalli M; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Mullikin JC; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Steinbach PJ; Center for Molecular Modeling, Center for Information Technology, National Institutes of Health, Bethesda, Maryland.; Gahl WA; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Gunay-Aygun M; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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

Gil-Krzewska A; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.; Murakami Y; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.; Peruzzi G; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.; O'Brien KJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Merideth MA; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Cullinane AR; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Department of Anatomy, College of Medicine, Howard University, Washington, DC, USA.; Gahl WA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Coligan JE; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.; Gochuico BR; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Krzewski K; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

Singh A; Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.; Bryan MM; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Roney JC; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Cullinane AR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Gahl WA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Khurana N; Department of Pathology, MAMC Associated Lok Nayak Hospital, New Delhi, India.; Kapoor S; Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.

Publisher: Blackwell Science Country of Publication: England NLM ID: 0243704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-4632 (Electronic) Linking ISSN: 00119059 NLM ISO Abbreviation: Int J Dermatol Subsets: MEDLINE

Cullinane AR; 1 Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.; Yeager C; Dorward H; Carmona-Rivera C; Wu HP; Moss J; O'Brien KJ; Nathan SD; Meyer KC; Rosas IO; Helip-Wooley A; Huizing M; Gahl WA; Gochuico BR

Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Internet ISSN: 1535-4989 (Electronic) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE

Leoyklang P; Biomedical Science Program, Faculty of Graduate School, Chulalongkorn University, Bangkok, Thailand.; Suphapeetiporn K; Srichomthong C; Tongkobpetch S; Fietze S; Dorward H; Cullinane AR; Gahl WA; Huizing M; Shotelersuk V

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Cullinane AR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.; Schäffer AA; Huizing M

Publisher: Wiley Country of Publication: England NLM ID: 100939340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0854 (Electronic) Linking ISSN: 13989219 NLM ISO Abbreviation: Traffic Subsets: MEDLINE

Cullinane AR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. andrew.cullinane@nih.gov; Curry JA; Golas G; Pan J; Carmona-Rivera C; Hess RA; White JG; Huizing M; Gahl WA

Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-148X (Electronic) Linking ISSN: 17551471 NLM ISO Abbreviation: Pigment Cell Melanoma Res Subsets: MEDLINE

Yang Q; State Key Laboratory of Molecular and Developmental Biology, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China.; He X; Yang L; Zhou Z; Cullinane AR; Wei A; Zhang Z; Hao Z; Zhang A; He M; Feng Y; Gao X; Gahl WA; Huizing M; Li W

Publisher: Wiley Country of Publication: England NLM ID: 100939340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0854 (Electronic) Linking ISSN: 13989219 NLM ISO Abbreviation: Traffic Subsets: MEDLINE

Westbroek W; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda MD, USA. wwestbro@mail.nih.gov; Klar A; Cullinane AR; Ziegler SG; Hurvitz H; Ganem A; Wilson K; Dorward H; Huizing M; Tamimi H; Vainshtein I; Berkun Y; Lavie M; Gahl WA; Anikster Y

Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-148X (Electronic) Linking ISSN: 17551471 NLM ISO Abbreviation: Pigment Cell Melanoma Res Subsets: MEDLINE

Cullinane AR; Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.; Straatman-Iwanowska A; Zaucker A; Wakabayashi Y; Bruce CK; Luo G; Rahman F; Gürakan F; Utine E; Ozkan TB; Denecke J; Vukovic J; Di Rocco M; Mandel H; Cangul H; Matthews RP; Thomas SG; Rappoport JZ; Arias IM; Wolburg H; Knisely AS; Kelly DA; Müller F; Maher ER; Gissen P

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Dawe HR; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK.; Smith UM; Cullinane AR; Gerrelli D; Cox P; Badano JL; Blair-Reid S; Sriram N; Katsanis N; Attie-Bitach T; Afford SC; Copp AJ; Kelly DA; Gull K; Johnson CA

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Inova Translational Medicine Institute, Falls Church, Virginia, USA.; Doherty DA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Glass IA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Phelps IG; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Cullinane AR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Anatomy, Howard University College of Medicine, Washington DC, USA.; Zein W; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.; Brooks BP; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.; Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA.; Soldatos A; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Oden NL; The EMMES Corporation, Rockville, Maryland, USA.; Yildirimli D; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Vemulapalli M; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Nisc Comparative Sequencing Program; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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

Poretti A; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Snow J; Intramural Research Program, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, Maryland, USA.; Summers AC; Intramural Research Program, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, Maryland, USA.; Tekes A; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Huisman TAGM; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Aygun N; Division of Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Carson KA; Department of Epidemiology, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA.; Division of General Internal Medicine, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Parisi MA; Intellectual and Developmental Disabilities Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.; Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Maryland, USA.; Yildirimli D; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Vemulapalli M; NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Cullinane AR; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Department of Anatomy, Howard University College of Medicine, Washington District of Columbia, USA.; Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Inova Translational Medicine Institute, Falls Church, Virginia, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Maryland, USA.; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Cullinane AR; Curry JA; Carmona-Rivera C; Summers CG; Ciccone C; Cardillo ND; Dorward H; Hess RA; White JG; Adams D; Huizing M; Gahl WA

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

O'Brien KJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892-1205, USA.; Lozier J; Department of Laboratory Medicine, Clinical Center, NIH, 10 Center Drive, Bethesda, MD 20892-1508, USA.; Cullinane AR; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA; Department of Anatomy, College of Medicine, Howard University, 520 W St., NW, Washington, DC 20059, USA.; Osorio B; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892-1205, USA.; Nghiem K; Department of Laboratory Medicine, Clinical Center, NIH, 10 Center Drive, Bethesda, MD 20892-1508, USA.; Speransky V; National Institute of Biomedical Imaging and Bioengineering, NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA.; Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, 10 Center Drive, Bethesda, MD 20892-1860, USA.; Mullikin JC; NIH Intramural Sequencing Center, NIH, 5625 Fishers Lane, Rockville, MD 20852, USA.; Neff AT; Department of Hematology/Medical Oncology, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.; Simon KL; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA.; Malicdan MC; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA.; Gahl WA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892-1205, USA; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA.; Young LR; Division of Pediatric Allergy, Immunology, and Pulmonary Medicine, Vanderbilt University School of Medicine, 2200 Children's Way, 11215 Doctors' Office Tower, Nashville, TN 37232-9500, USA; Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine,1161 21st Ave. South, T-1217 Medical Center North, Nashville, TN 37232-9500, USA.; Gochuico BR; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA. Electronic address: gochuicb@mail.nih.gov.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Introne WJ; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis. wintrone@mail.nih.gov.; Westbroek W; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Cullinane AR; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Groden CA; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Bhambhani V; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Golas GA; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Baker EH; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Lehky TJ; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Snow J; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Ziegler SG; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Adams DR; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Dorward HM; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Hess RA; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Huizing M; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Gahl WA; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.; Toro C; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE