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1دورية أكاديمية
المؤلفون: R. J. Kuppens, E. F. Mahabier, N. E. Bakker, E. P. C. Siemensma, S. H. Donze, A. C. S. Hokken-Koelega
المصدر: Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-8 (2016)
مصطلحات موضوعية: Prader-Willi syndrome, Growth hormone treatment, Cognition, Young adults, Medicine
وصف الملف: electronic resource
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2
المؤلفون: Steffen Syrbe, Michael Parker, Georg F. Hoffmann, Julian Schröter, Emilia K. Bijlsma, Deb K. Pal, Bernt Popp, Dagmar Huhle, L. Jestaedt, Stefan Kölker, A. van Haeringen, Heiko Brennenstuhl, Sonja Neuser, Johannes R. Lemke, S. H. Donze, Andreas Merkenschlager, Jan Henje Döring, D. Gräfe, Inga Harting, Stephanie Oates, Maria Arelin
المصدر: European Journal of Human Genetics, 30(3), 298-306. SPRINGERNATURE
مصطلحات موضوعية: Epilepsy, business.industry, Mutation, Missense, Nervous System Malformations, Phenotype, Pregnancy, Tubulin, Mutation, Genetics, Medicine, Humans, Female, business, Lissencephaly, Neuroscience, Genetics (clinical), Early onset
وصف الملف: application/pdf