부산대학교 도서관

Sabir MS; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK.; Dobrenis K; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, USA.; Rha AK; Research Institute, Children's Hospital of Orange County, Orange, CA, USA.; Pollard L; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, USA.; Leoyklang P; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Marrero M; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, USA.; Ciccone C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Hackbarth ME; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Wang RY; Division of Metabolic Disorders, Children's Hospital of Orange County Specialists, Orange, CA, USA.; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA, USA.; Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Platt FM; Department of Pharmacology, University of Oxford, Oxford, UK.; Malicdan MCV; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Ferreira, Carlos R; Kintzinger, Kristina; Hackbarth, Mary E; Botschen, Ulrike; Nitschke, Yvonne; Mughal, M Zulf; Baujat, Genevieve; Schnabel, Dirk; Yuen, Eric; Gahl, William A; Gafni, Rachel I; Liu, Qing; Huertas, Pedro; Khursigara, Gus; Rutsch, Frank

Journal of Bone & Mineral Research; Nov2021, Vol. 36 Issue 11, p2193-2202, 10p

Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.; Hackbarth ME; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States.; Nitschke Y; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany.; Botschen U; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany.; Gafni RI; National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.; Mughal MZ; Al Jalila Children's Specialty Hospital, Dubai, UAE.; Baujat G; Département de Génétique, Centre de Référence Maladies Osseuses Constitutionnelles (CR MOC) et Filière OSCAR, Hôpital Necker-Enfants Malades, 75015 Paris, France.; Schnabel D; Center for Chronically Sick Children, Pediatric Endocrinology, Charitè, University Medicine Berlin, 10117 Berlin, Germany.; Schou IM; Pulse Economics Pty Ltd., Macquarie Park, NSW 2113, Australia.; Khursigara G; Inozyme Pharma, Inc., Boston, MA 02210, United States.; Reardon O; Pulse Economics Pty Ltd., Macquarie Park, NSW 2113, Australia.; Burklow TR; NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, United States.; Swanner K; Inozyme Pharma, Inc., Boston, MA 02210, United States.; Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE

Sabir MS; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK.; Leoyklang P; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Hackbarth ME; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Pak E; Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Dutra A; Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Tait R; ALSTEM, Inc., Richmond, CA, USA.; Pollard L; Biochemical Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, USA.; Adams DR; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Gahl WA; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Malicdan MCV; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States. Electronic address: mhuizing@mail.nih.gov.; Hackbarth ME; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States.; Adams DR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States.; Wasserstein M; Departments of Pediatrics and Genetics, The Children's Hospital at Montefiore, Bronx, NY, 10467, United States; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States.; Patterson MC; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, United States.; Walkley SU; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States.

Publisher: Elsevier Scientific Publishers Ireland Country of Publication: Ireland NLM ID: 7600130 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7972 (Electronic) Linking ISSN: 03043940 NLM ISO Abbreviation: Neurosci Lett Subsets: MEDLINE

Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. ferreiracr@mail.nih.gov.; Hackbarth ME; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Ziegler SG; Departments of Pediatrics and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Pan KS; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.; Roberts MS; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.; Rosing DR; Cardiovascular Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Whelpley MS; Cardiovascular Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Bryant JC; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Macnamara EF; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Wang S; ICON plc, Vancouver, BC, Canada.; Müller K; ICON plc, Vancouver, BC, Canada.; Hartley IR; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.; Chew EY; Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Corden TE; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.; Jacobsen CM; Divisions of Endocrinology and Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Holm IA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA, USA.; Rutsch F; Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany.; Dikoglu E; Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Chen MY; Cardiovascular CT Laboratory, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Mughal MZ; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK.; Levine MA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Gafni RI; Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 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