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المؤلفون: Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Dec; Vol. 20 (12), pp. 1240-7. Date of Electronic Publication: 2012 May 23.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Deletion* , Genotype* , Phenotype*, Cell Adhesion Molecules, Neuronal/*genetics , Exons/*genetics , Intellectual Disability/*diagnosis , Intellectual Disability/*genetics , Nerve Tissue Proteins/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Calcium-Binding Proteins ; Child ; Child Development Disorders, Pervasive/diagnosis ; Child Development Disorders, Pervasive/genetics ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Introns ; Male ; Microarray Analysis ; Muscle Hypotonia/congenital ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Neural Cell Adhesion Molecules ; Protein Isoforms/genetics