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المؤلفون: Marta Sabbadini, Jude M. Abadie, Anne Slavotinek, Jessica Van Ziffle, Mark N. Kvale, Hane Lee, Neil Risch, Pui-Yan Kwok, Heather H. Pua, Joseph T. Shieh, Ugur Hodoglugil
المصدر: European Journal of Medical Genetics. 60:504-508
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Mutation, Missense, Receptors, Cytoplasmic and Nuclear, Scoliosis, Biology, Frameshift mutation, 03 medical and health sciences, Protein Domains, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Exome sequencing, Nuclear Proteins, Syndrome, General Medicine, Anatomy, medicine.disease, Hypotonia, Arnold-Chiari Malformation, Repressor Proteins, Phenotype, 030104 developmental biology, Palpebral fissure, Muscle Hypotonia, Autism, medicine.symptom, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ff7847a28beeb4f5eb70741ed2db92Test
https://doi.org/10.1016/j.ejmg.2017.07.003Test -
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المؤلفون: Ugur Hodoglugil, Daniah Beleford, Jessica Van Ziffle, Anne Slavotinek
المصدر: European Journal of Medical Genetics. 63:103969
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Psychological intervention, General Medicine, medicine.disease, Obesity, Diabetes mellitus, Intellectual disability, Genetics, medicine, Missense mutation, Medical genetics, business, Genetics (clinical), Dyslipidemia, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::75c53d425fa0052688c32bc4d990ec9fTest
https://doi.org/10.1016/j.ejmg.2020.103969Test