Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
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Rubinstein-Taybi Syndrome - an overview
CBP Is Required for Establishing Adaptive Gene Programs in the Adult Mouse Brain. - Abstract - Europe PMC
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC
Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. - Abstract - Europe PMC
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
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. - Abstract - Europe PMC
PDF) Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - Abstract - Europe PMC
The Problem Of Obesity Is A Great Concern As Children With
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. - Abstract - Europe PMC
Reprogramming of the epigenome in neurodevelopmental disorders. - Abstract - Europe PMC
Rubinstein-Taybi Syndrome Awareness
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