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المؤلفون: Amjed Abu-Ghname, Anjali C. Raghuram, Renata S. Maricevich, Matthew J. Davis, Claudia M.B. Carvalho, Diana E Guillen, V. Reid Sutton, Christopher J. Conlon
المصدر: American journal of medical genetics. Part AREFERENCES. 185(12)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Craniofacial abnormality, Limb Deformities, Congenital, Physical examination, Dwarfism, Genes, Recessive, Craniofacial Abnormalities, Frontal Bossing, Young Adult, Genetics, medicine, Humans, Abnormalities, Multiple, Craniofacial, Hypertelorism, Child, Genetics (clinical), Genes, Dominant, medicine.diagnostic_test, business.industry, Macrocephaly, ROR2, Middle Aged, medicine.disease, Dermatology, Robinow syndrome, Spine, Phenotype, Child, Preschool, Urogenital Abnormalities, Mutation, Female, medicine.symptom, Mouth Abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c30ba8946941124bc0c86aa0e27621e4Test
https://pubmed.ncbi.nlm.nih.gov/33237614Test -
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المؤلفون: Marc C. Patterson, Thomas Courtin, Scott D. McLean, Jeanne Amiel, Kimberly Nugent, Daryl A. Scott, Maham Sewani, Sandra Whalen, Boris Keren, Yaping Yang, Patrick R. Blackburn, Jessica M. Tarnowski, Jill A. Rosenfeld, Pavel N. Pichurin, Andres Hernandez-Garcia
المصدر: American journal of medical genetics. Part AREFERENCES. 182(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Heart Defects, Congenital, Male, Developmental Disabilities, Gestational Age, 030105 genetics & heredity, Biology, Corpus callosum, 03 medical and health sciences, Frontal Bossing, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Genetics (clinical), Loss function, Hemizygote, Macrocephaly, RNA-Binding Proteins, Syndrome, medicine.disease, Hypotonia, DNA-Binding Proteins, 030104 developmental biology, Palpebral fissure, Phenotype, Child, Preschool, Mutation, Left ventricular noncompaction, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cff03a9d644f71db78d3cdae7c74f8aTest
https://pubmed.ncbi.nlm.nih.gov/31883306Test