Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Por um escritor misterioso
Last updated 21 outubro 2024
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. - Abstract - Europe PMC
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. - Abstract - Europe PMC
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France. - Abstract - Europe PMC
Scientific Abstracts of the 16th Congress of the European Academy of Paediatric Dentistry (EAPD), Lisbon, Portugal, June 15–18, 2022
Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC
Kabuki Syndrome-Clinical Review with Molecular Aspects. - Abstract - Europe PMC
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
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