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المؤلفون: Liu, X., Nuwayhid, S., Christie, M. J., Kassiou, M., Werling, L. L.

المصدر: European Journal of Pharmacology; 2001, Vol. 422 Issue: 1 p39-45, 7p

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المؤلفون: Nistala H; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Dronzek J; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Chim SM; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Rajamani S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Nuwayhid S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Delgado D; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Burke E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Franklin MC; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Sarangapani P; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Podgorski M; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Tang Y; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Dominguez MG; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Withers M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Deckelbaum RA; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Scheonherr CJ; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Gahl WA; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Malicdan MC; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Zambrowicz B; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Gale NW; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Chung WK; Columbia University Medical Center, New York, NY 10032, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Economides AN; Regeneron Genetics Center, Tarrytown, NY 10591, USA.; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2021 Jan 06; Vol. 29 (21), pp. 3516-3531.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Acid Anhydride Hydrolases/*deficiency , Intellectual Disability/*pathology , Microcephaly/*pathology , Muscle Hypotonia/*pathology , Neurodevelopmental Disorders/*pathology , Phosphoric Monoester Hydrolases/*genetics, Alleles ; Animals ; Child, Preschool ; Female ; Humans ; Infant ; Intellectual Disability/etiology ; Intellectual Disability/metabolism ; Male ; Mice ; Microcephaly/etiology ; Microcephaly/metabolism ; Muscle Hypotonia/etiology ; Muscle Hypotonia/metabolism ; Neurodevelopmental Disorders/etiology ; Neurodevelopmental Disorders/metabolism ; Pedigree ; Phenotype