High frequency of copy number imbalances in Rubinstein–Taybi
Por um escritor misterioso
Last updated 23 maio 2024
The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes
PDF) New dysmorphic features in Rubinstein-Taybi syndrome
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation - ScienceDirect
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
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect
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