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المؤلفون: Roya Mostafavi, M. Mahdi Motazacker, Julie M. Gastier-Foster, Cheryl Garganta, Kristen V. Truxal, Eline Overwater, Mieke M. van Haelst, Eniko K. Pivnick, Laurence E. Walsh, Valerie J. Castelluccio, Elizabeth S. Barrie, Erin Crist, Tara Chandra Narumanchi, Asim F. Choudhri
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis
المصدر: American Journal of Medical Genetics, Part A, 182(5), 1201-1208. Wiley-Liss Inc.
Barrie, E S, Overwater, E, van Haelst, M M, Motazacker, M M, Truxal, K V, Crist, E, Mostafavi, R, Pivnick, E K, Choudhri, A F, Narumanchi, T C, Castelluccio, V, Walsh, L E, Garganta, C & Gastier-Foster, J M 2020, ' Expanding the spectrum of CEP55-associated disease to viable phenotypes ', American Journal of Medical Genetics, Part A, vol. 182, no. 5, pp. 1201-1208 . https://doi.org/10.1002/ajmg.a.61512
American journal of medical genetics. Part A, 182(5), 1201-1208. Wiley-Liss Inc.مصطلحات موضوعية: Genetics, Microcephaly, media_common.quotation_subject, Pachygyria, Nonsense, Lissencephaly, Biology, Hydranencephaly, medicine.disease, Compound heterozygosity, Meckel-like syndrome, medicine, Missense mutation, CEP55, Cerebellar hypoplasia, Genetics (clinical), MARCH syndrome, media_common
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المؤلفون: D. Franceschini, Andrea Guala, D. Licata, Pietro Gaglioti, Gianna Gianotti, Gianni Botta, Piergiorgio Franceschini
المصدر: American journal of medical genetics. Part A. 131(2)
مصطلحات موضوعية: Central Nervous System, Polycystic Kidney Diseases, business.industry, Limb Deformities, Congenital, Anatomy, Syndrome, Cerebro, medicine.disease, Kidney, Meckel-Like Syndrome, Fetus, Acetabular spurs, Polycystic kidney disease, Medicine, Humans, Abnormalities, Multiple, Female, business, Kidney abnormalities, Pelvic Bones, Genetics (clinical)
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المؤلفون: G. Mundel, K. Fried, J. Bukovsky, A Reif
المصدر: Clinical genetics. 5(1)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cleft Lip, Meckel-Like Syndrome, Abdomen, Genetics, medicine, Humans, Abnormalities, Multiple, Syndactyly, Meckel syndrome, Pathological, Genetics (clinical), Encephalocele, Phenocopy, business.industry, Brain, Thorax, medicine.disease, Dermatology, Cleft Palate, Karyotyping, Etiology, Female, business