Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Por um escritor misterioso
Descrição
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010
Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Rubinstein–Taybi syndrome European Journal of Human Genetics
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