High frequency of copy number imbalances in Rubinstein–Taybi
Por um escritor misterioso
Last updated 24 setembro 2024
Genes, Free Full-Text
PDF) Rubinstein-Taybi syndrome in diverse populations
Genes, Free Full-Text
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine
PDF) Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
PDF) Electroclinical phenotype in Rubinstein–Taybi syndrome
The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
Genes, Free Full-Text
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation, BMC Medical Genomics
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