Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
Por um escritor misterioso
Last updated 22 outubro 2024
Canal Dehiscense
PDF) Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
Glaucoma and Findings Simulating Glaucoma in the Rubinstein-Taybi Syndrome
Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X
Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine
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