المؤلفون: Jonathon G. Keeney, James R. Lupski, Tasha E. Fingerlin, Jay M. Jackson, Sandesh S.C. Nagamani, Judith L. Rapoport, Sau Wai Cheung, Jay N. Giedd, Rachel Sugalski, James M. Sikela, Jonathan M. Davis, C. Michael Dickens, Armin Raznahan, Majesta O'Bleness, Ayelet Erez, Laura Dumas, Megan Sikela, Nicola Brunetti-Pierri, Nathan Anderson

المساهمون: Dumas, Lj, O'Bleness, M, Davis, Jm, Dickens, Cm, Anderson, N, Keeney, Jg, Jackson, J, Sikela, M, Raznahan, A, Giedd, J, Rapoport, J, Nagamani, S, Erez, A, BRUNETTI PIERRI, Nicola, Sugalski, R, Lupski, Jr, Fingerlin, T, Cheung, Sw, Sikela, J. M.

المصدر: The American Journal of Human Genetics. 91:444-454

مصطلحات موضوعية: Microcephaly, DNA Copy Number Variations, Population, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Molecular evolution, Gene Duplication, Genetics, medicine, Animals, Humans, Genetics(clinical), education, Genetics (clinical), 030304 developmental biology, Comparative Genomic Hybridization, 0303 health sciences, education.field_of_study, Base Sequence, Macrocephaly, Brain, Organ Size, medicine.disease, Biological Evolution, Megalencephaly, DUF1220, Chromosomes, Human, Pair 1, Brain size, Human genome, medicine.symptom, 030217 neurology & neurosurgery, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852d126c2a1a9a08b0781f87a49258e6Test
https://doi.org/10.1016/j.ajhg.2012.07.016Test

المؤلفون: Massimiliano Rossi, Nicola Brunetti-Pierri, Francesco Rivasi, Gaetano Corso, Ida Annunziata, Giancarlo Parenti, Antonio Dello Russo, Paola Ferrari, Fiorella Balli, Generoso Andria, Andrea Ballabio

المساهمون: BRUNETTI PIERRI, Nicola, Corso, G, Rossi, M, Ferrari, P, Balli, F, Rivasi, F, Annunziata, I, Ballabio, Andrea, DELLO RUSSO, A, Andria, G, Parenti, Giancarlo, Andria, Generoso

المصدر: Scopus-Elsevier

مصطلحات موضوعية: medicine.medical_specialty, Oxidoreductases Acting on CH-CH Group Donors, Lathosterol, Pathogenesis, chemistry.chemical_compound, Internal medicine, Report, Intellectual Disability, medicine, Genetics, Missense mutation, Humans, Abnormalities, Multiple, Genetics(clinical), Genetics (clinical), business.industry, Lathosterolosis, Infant, Syndrome, Lathosterol oxidase, medicine.disease, Phenotype, Desmosterolosis, Endocrinology, Cholesterol, chemistry, lipids (amino acids, peptides, and proteins), Hydroxysteroid, business, Oxidoreductases

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62dfe7b74ed3a2c3fd1cbe14d2ceec1Test