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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of

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Last updated 14 junho 2024
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
PDF] Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Rubinstein-Taybi Syndrome 1
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
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
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
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