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المؤلفون: Victoria E. Jackson, Julie McGaughran, David J. Amor, Olivia van Reyk, Michael S. Hildebrand, Gopinath M. Subramanian, Himanshu Goel, Bryony Beal, Ian Hayes, Christina Miteff, Angela T Morgan
المصدر: Clinical Dysmorphology. 28:169-174
مصطلحات موضوعية: Proband, medicine.medical_specialty, Genotype, Germline mosaicism, Pathology and Forensic Medicine, DEAD-box RNA Helicases, Genetic Heterogeneity, Intellectual disability, Deformity, medicine, Humans, Genetic Predisposition to Disease, Alleles, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Exome sequencing, Mosaicism, business.industry, Genetic heterogeneity, Siblings, Facies, Syndrome, General Medicine, Short palpebral fissure, medicine.disease, Dermatology, Phenotype, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Female, Anatomy, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70104fc8b481657d505c14b41b5bbe93
https://doi.org/10.1097/mcd.0000000000000289