Clinical and molecular findings of the six patients with Rubinstein
Por um escritor misterioso
Last updated 11 abril 2025


Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations - Modern Pathology

Phenotypes of the patients. a Facial appearances of patients 1-14.

Clinical and molecular findings of the six patients with Rubinstein

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

Risk factors of disordered eating in adolescent girls from a community sample: a multidimensional approach - Meshkova - Consortium Psychiatricum

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Schematic representation of the three main molecular mechanisms of

Localisation of nine CREBBP mutations (six of them of novel

Human Infection with Fusobacterium necrophorum (Necrobacillosis), with a Focus on Lemierre's Syndrome

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

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