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1دورية أكاديمية
المصدر: Molecular Genetics and Genomic Medicine. 7(2)
مصطلحات موضوعية: STAG2, X-linked gene, clinical exome sequencing, cohesin complex, cohesin-associated genes, cohesinopathies, human growth, neurodevelopment, reanalysis, Antigens, Nuclear, Cell Cycle Proteins, Child, Preschool, Developmental Disabilities, Genetic Diseases, X-Linked, Growth Disorders, Humans, Male, Mutation, Missense, Phenotype, Polydactyly, Syndrome
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/759783h7Test
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المؤلفون: Sureni V. Mullegama, Eric Vilain, Steven D Klein, Julian A. Martinez-Agosto, Rebecca Signer
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Male, 0301 basic medicine, Cohesin complex, STAG2, DNA repair, Developmental Disabilities, cohesin‐associated genes, reanalysis, X‐linked gene, Mutation, Missense, Cell Cycle Proteins, 030105 genetics & heredity, SMC1A, Biology, Short stature, Clinical Reports, 03 medical and health sciences, cohesinopathies, Genetics, medicine, Humans, Missense mutation, Molecular Biology, human growth, Growth Disorders, Genetics (clinical), Exome sequencing, Clinical Report, cohesin complex, neurodevelopment, clinical exome sequencing, Antigens, Nuclear, Genetic Diseases, X-Linked, Syndrome, Phenotype, Establishment of sister chromatid cohesion, Polydactyly, 030104 developmental biology, Child, Preschool, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028860ff8b30b0c0cb35becaddf0b81cTest
https://doi.org/10.1002/mgg3.501Test