부산대학교 도서관

Tatsi, C; Gkourogianni, A; Mohnike, K; DeArment, D; Witchel, S; Andrade, AC; Markello, TC; Baron, J; Nilsson, O; Jee, YH

JOURNAL OF THE ENDOCRINE SOCIETY. 1(8):1006-1011

Sharma P; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. sharmap@nih.gov.; McFadden JR; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Frost FG; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Introne WJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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

St Hilaire C; Ziegler SG; Markello TC; BRUSCO, Alfredo; Groden C; Gill F; Carlson Donohoe H; Lederman RJ; Chen MY; Yang D; Siegenthaler MP; Arduino C; MANCINI, CECILIA; Freudenthal B; Stanescu HC; Zdebik AA; Chaganti RK; Nussbaum RL; Kleta R; Gahl WA; Boehm M.

New England Journal of Medicine. 364:432-442

Jee YH; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD.; Department of Pediatrics, Center for Genetic Medicine Research, The George Washington University School of Medicine and Health Sciences, Washington, DC.; Division of Endocrinology, Children's National Hospital, Washington, DC.; Lui JC; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD.; Marafi D; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Xia ZJ; Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA.; Bhatia R; Department of Pediatrics, Center for Genetic Medicine Research, The George Washington University School of Medicine and Health Sciences, Washington, DC.; Zhou E; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD.; Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Department of Neurosciences, Neurogenetics and Rare Diseases, Boys Town National Research Hospital, Boys Town, NE.; Texas Children's Hospital, Houston, TX.; Temnycky A; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD.; Whalen P; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD.; Elliot G; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Leschek EW; National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD.; Wijngaard R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Beek R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vreugd A; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries MC; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Markello TC; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Undiagnosed Diseases Research Program, National Institutes of Health, Bethesda, MD.; Barnes KM; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD.; Alrohaif H; Kuwait Medical Genetics Centre, AlSabah Hospital, Kuwait.; Freeze HH; Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA.; Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Undiagnosed Diseases Research Program, National Institutes of Health, Bethesda, MD.; Malicdan MCV; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Undiagnosed Diseases Research Program, National Institutes of Health, Bethesda, MD.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Baron J; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Mota A; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Waxman HK; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Hong R; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Bioinformatics Program, Boston University, Boston, Massachusetts, United States of America.; Lagani GD; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Niu SY; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Bertherat FL; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Malicdan CM; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, and National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Cheng CS; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Bioinformatics Program, Boston University, Boston, Massachusetts, United States of America.; Beffert U; Department of Biology, Boston University, Boston, Massachusetts, United States of America.; Ho A; Department of Biology, Boston University, Boston, Massachusetts, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Burke EA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Sturgeon M; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.; Zastrow DB; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Fernandez L; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Prybol C; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Marwaha S; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Frothingham EP; Mid-Valley Children's Clinic, Albany, OR, USA.; Ward PA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fresard L; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Montgomery SB; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Fisher PG; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.; Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Harding B; Departments of Pathology and Lab Medicine (Neuropathology), Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Carrington B; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Bishop K; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Sood R; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Huang Y; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Elkahloun A; Microarray Core, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.; Wheeler MT; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 8406473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1563-5260 (Electronic) Linking ISSN: 01677063 NLM ISO Abbreviation: J Neurogenet Subsets: MEDLINE

Sharma P; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Reichert M; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Lu Y; Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Bethesda, Maryland, United States of America.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Steinbach PJ; Center for Molecular Modeling, Center for Information Technology, National Institutes of Health, Bethesda, Maryland, United States of America.; Fuqua BK; Department of Medicine, University of California, Los Angeles, United States of America.; Parisi X; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Kaler SG; Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America.; Vulpe CD; Center for Environmental and Human Toxicology, Department of Physiological Sciences, University of Florida, Gainesville, Florida, United States of America.; Anderson GJ; Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Bethesda, Maryland, United States of America.; Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Gartner V; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.; Markello TC; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.; Macnamara E; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.; De Biase A; RainDance Technologies, Inc., Billerica, Massachusetts.; Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.; Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.; Beggs A; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Schmahmann JD; Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.; Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Anselm I; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Boslet E; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.; Tifft CJ; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.; Gahl WA; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.; Lee PR; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.; Division of Neurology Products, Center for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, 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

Metz KA; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Teng X; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.; Coppens I; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Lamb HM; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Wagner BE; Histopathology Department, Royal Hallamshire Hospital, Sheffield, United Kingdom.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Chen X; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.; Zhang Y; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.; Kim HJ; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA.; Meadow ME; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA.; Wang TS; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD.; Haberlandt ED; Clinical Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.; Department of Child and Youth Health, Hospital of Dornbirn, Dornbirn, Austria.; Anderson GW; Histopathology Department, Great Ormond Street Hospital for Children, London, United Kingdom.; Leshinsky-Silver E; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Markello TC; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Pratt M; Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, OK.; Makhseed N; Department of Pediatrics, Jahra Hospital, Ministry of Health, Al Jahra, Kuwait.; Garnica A; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.; Danylchuk NR; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.; Burrow TA; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL.; McKnight D; GeneDx, Gaithersburg, MD.; Agadi S; Department of Neurology, Texas Children's Hospital, Houston, TX.; Gbedawo H; Vital Kids Medicine, Seattle, WA.; Stanley C; Courtagen Life Sciences, Woburn, MA.; Alber M; Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Prehl I; Practice for Human Genetics, CeGaT, Tübingen, Germany.; Peariso K; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Ong MT; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.; Mordekar SR; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.; Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.; Crooks D; Department of Neuropathology, Walton Centre National Health Service Foundation Trust, Liverpool, United Kingdom.; Agrawal PB; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Berry GT; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Loddenkemper T; Department of Neurology, Boston Children's Hospital, Boston, MA.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Maegawa GHB; Department of Pediatrics/Genetics and Metabolism, University of Florida, Gainesville, FL.; Aouacheria A; Montpellier Institute of Evolution Sciences, University of Montpellier, CNRS, EPHE, IRD, Montpellier, France.; Markle JG; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Wohlschlegel JA; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA.; Hartman AL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.; Hardwick JM; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol

Oprescu SN; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.; Chepa-Lotrea X; NIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Takase R; Department of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, Pennsylvania.; Golas G; NIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Markello TC; NIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Adams DR; NIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Toro C; NIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Gropman AL; Division of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, District of Columbia.; Hou YM; Department of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, Pennsylvania.; Malicdan MCV; NIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Gahl WA; NIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Tifft CJ; NIH, Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.; Department of Neurology, University of Michigan, Ann Arbor, Michigan.

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

Jee YH; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Sowada N; Institute of Human Genetics, University of Ulm, Ulm, Germany.; Markello TC; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Rezvani I; Section of Pediatric Endocrinology and Diabetes, Department of Pediatrics, St. Christopher's Hospital of Children, Philadelphia, PA, USA.; Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany.; Baron J; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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

Chatrathi HE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Collins JC; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research (J.C.C., A.W.), National Institutes of Health, Bethesda, MD.; Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research (J.C.C., A.W.), National Institutes of Health, Bethesda, MD.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research (J.C.C., A.W.), National Institutes of Health, Bethesda, MD.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute (T.C.M., D.R.A., W.A.G.), National Institutes of Health, Bethesda, MD.; Werner A; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research (J.C.C., A.W.), National Institutes of Health, Bethesda, MD.; Sharma P; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director (H.E.C., L.A.W., T.C.M., D.R.A., W.A.G., P.S.), National Institutes of Health, Bethesda, MD.

Publisher: Lippincott, Williams & Wilkins Country of Publication: United States NLM ID: 7906255 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4563 (Electronic) Linking ISSN: 0194911X NLM ISO Abbreviation: Hypertension Subsets: MEDLINE

Kanca O; Andrews JC; Lee PT; Patel C; Braddock SR; Slavotinek AM; Cohen JS; Gubbels CS; Aldinger KA; Williams J; Indaram M; Fatemi A; Yu TW; Agrawal PB; Vezina G; Simons C; Crawford J; Lau CC; Chung WK; Markello TC; Dobyns WB; Adams DR; Gahl WA; Wangler MF; Yamamoto S; Bellen HJ; Malicdan MCV

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

Rouhani FN; Brantly ML; Markello TC; Helip-Wooley A; O'Brien K; Hess R; Huizing M; Gahl WA; Gochuico BR; Rouhani, Farshid N; Brantly, Mark L; Markello, Thomas C; Helip-Wooley, Amanda; O'Brien, Kevin; Hess, Richard; Huizing, Marjan; Gahl, William A; Gochuico, Bernadette R

American Journal of Respiratory & Critical Care Medicine (AM J RESPIR CRIT CARE MED), Dec2009; 180(11): 1114-1121. (8p)

Nicoli ER; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.; Weston MR; Membrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Hackbarth M; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.; Becerril A; Membrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.; Baker PR 2nd; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Burke JD; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Dorward H; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Davids M; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.; Huang Y; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.; Adams DR; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Zerfas PM; Diagnostic and Research Services Branch, Office of Research Services, NIH, Bethesda, MD 20892, USA.; Chen D; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Markello TC; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Wood T; Metabolic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Elliott G; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Vu M; National Center for Translational Science, NIH, Rockville, MD 20850, USA.; Zheng W; National Center for Translational Science, NIH, Rockville, MD 20850, USA.; Garrett LJ; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Tifft CJ; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; Day-Salvatore DL; Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ 08901, USA.; Mindell JA; Membrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA. Electronic address: mindellj@ninds.nih.gov.; Malicdan MCV; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address: malicdanm@mail.nih.gov.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Du C; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.; Pusey BN; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.; Adams CJ; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.; Lau CC; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.; Bone WP; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.; Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.; Adams DR; NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA. dadams1@mail.nih.gov.

Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Sweadner KJ; Departments of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, and Office of the Clinical Director, NHGRI, Bethesda, Maryland, United States of America.; Whitlow CT; Departments of Radiology and Biomedical Engineering, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America.; Snively BM; Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America.; Cook JF; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America.; Ozelius LJ; Department of Neurology, Massachusetts General Hospital, Boston Massachusetts, United States of America.; Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, and Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, Bethesda, Maryland, United States of America.; Brashear A; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Markellos, RN; Mills, TC

APPLIED ECONOMICS LETTERS; AUG 2001, 8 8, p499-p502, 4p.

Bui T; a The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.; Young JW; a The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.; Frausto RF; a The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.; Markello TC; b Undiagnosed Diseases Program, Office of Rare Diseases, NIH , Bethesda , MD , USA.; Glasgow BJ; a The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.; Aldave AJ; a The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

Trehan A; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Brady JM; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Maduro V; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Bone WP; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Huang Y; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Golas GA; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Kane MS; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Lee PR; National Institute of Neurological Disorder and Stroke, NIH, Bethesda, Maryland.; Thurm A; Pediatrics and Developmental Neuroscience, NIMH/NIH, Bethesda, Maryland.; Gropman AL; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; George Washington University School of Medicine and Health Sciences, Children's National Medical Center, Washington, District of Columbia.; Paul SM; Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, Maryland.; Vezina G; George Washington University School of Medicine and Health Sciences, Children's National Medical Center, Washington, District of Columbia.; Markello TC; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Gahl WA; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Boerkoel CF; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland.; Tifft CJ; Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland.; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, 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