Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
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A global map of associations between types of protein posttranslational modifications and human genetic diseases. - Abstract - Europe PMC
Molecular characteristics of meningiomas
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. - Abstract - Europe PMC
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC
PDF) Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Scientific Abstracts of the 16th Congress of the European Academy of Paediatric Dentistry (EAPD), Lisbon, Portugal, June 15–18, 2022
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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