Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome - Wild - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
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