High frequency of copy number imbalances in Rubinstein–Taybi
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Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - 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
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
PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
IJMS, Free Full-Text
PDF) Electroclinical phenotype in Rubinstein–Taybi syndrome
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
PDF) New dysmorphic features in Rubinstein-Taybi syndrome
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