Rubinstein–Taybi syndrome in diverse populations - Tekendo
Por um escritor misterioso
Last updated 09 novembro 2024
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome - Choi - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome - Sheppard - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Main clinical signs of the thirty-one Italian RSTS patients.
Genes, Free Full-Text
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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