High frequency of copy number imbalances in Rubinstein–Taybi
Por um escritor misterioso
Last updated 12 novembro 2024
PDF) Rubinstein-Taybi syndrome in diverse populations
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome - Genetics in Medicine
PDF) New mutation of Rubinstein-Taybi Syndrome
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype - Genetics in Medicine
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Genes, Free Full-Text
Frontiers De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation - ScienceDirect
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