Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Por um escritor misterioso
Descrição
Clinical exome sequencing identifies novel CREBBP variants in 18
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Exon deletions of the EP300 and CREBBP genes in two children with
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
Germline mosaicism in Rubinstein–Taybi syndrome - ScienceDirect
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
A submicroscopic deletion involving part of the CREBBP gene
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
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