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High frequency of copy number imbalances in Rubinstein–Taybi

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Last updated 22 dezembro 2024

High frequency of copy number imbalances in Rubinstein–Taybi

Genes, Free Full-Text

Concept of gene and variant prioritization. Top Left . Phenotype

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation - ScienceDirect

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization, BMC Genomics

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

Contemplating effects of genomic structural variation

Copy number (CN) determination using B allele frequency (BAF) and Log R

IJMS, Free Full-Text

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation - ScienceDirect

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect

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