Výsledky vyhledávání - "Krasnewich DM"

Akademický článek

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).

Autor: Weixel T; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Psychological Sciences, Kent State University, Kent, Ohio, USA., Adedipe D; Neurodevelopmental and Behavioral Phenotyping Service, Intramural Research Program, National Institute of Mental Health, Bethesda, Maryland, USA.; Nisonger Center, The Ohio State University, Columbus, Ohio, USA., Muldoon G; Neurodevelopmental and Behavioral Phenotyping Service, Intramural Research Program, National Institute of Mental Health, Bethesda, Maryland, USA.; Social Work, Boston, Massachusetts, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA., Krasnewich D; National Institute of General Medical Sciences, National Institutes of Health, Bethesda, Maryland, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, Intramural Research Program, National Institute of Mental Health, Bethesda, Maryland, USA., Wolfe L; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Aug 06. Date of Electronic Publication: 2024 Aug 06.

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Akademický článek

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Autor: Lam C; Medical Genetics and Genomic Medicine Training Program, Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA. Electronic address: lamct@mail.nih.gov., Golas GA; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA., Davids M; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA., Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA., Kane MS; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA., Krasnewich DM; Division of Genetics and Developmental Biology, NIGMS, NIH, Bethesda, MD, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA., Adams DR; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA., Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA., Zein WM; Ophthalmic Genetics and Visual Function Branch, NEI, NIH, Bethesda, MD, USA., Gropman AL; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA., Lodish MB; Heritable Disorders Branch, NICHD, NIH, Bethesda, MD, USA., Stratakis CA; Section on Endocrinology & Genetics, NICHD, NIH, Bethesda, MD, USA., Maric I; Hematology Service, Clinical Center, NIH, Bethesda, MD, USA., Rosenzweig SD; Immunology Service, Clinical Center, NIH, Bethesda, MD, USA., Baker EH; Department of Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, MD, USA., Ferreira CR; Medical Genetics and Genomic Medicine Training Program, Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA., Danylchuk NR; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA., Kahler S; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA., Garnica AD; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA., Bradley Schaefer G; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA., Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA., Gahl WA; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA., Wolfe LA; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2015 Jun-Jul; Vol. 115 (2-3), pp. 128-140. Date of Electronic Publication: 2015 May 01.

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