Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Por um escritor misterioso
Descrição
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
The missing link between genetic association and regulatory function
Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American Journal of Medical Genetics Part A - Wiley Online Library
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition - Musante - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract - Connaughton - 2022 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library
The missing link between genetic association and regulatory function
The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality - Ng - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein–Taybi syndrome - Wikipedia
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition - Musante - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
de
por adulto (o preço varia de acordo com o tamanho do grupo)
