CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Por um escritor misterioso
Last updated 08 novembro 2024
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
PDF) Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome - an overview
Mutation spectrum of CREBBP and EP300 in RSTS individuals referenced in
Recomendado para você
-
Rubinstein-Taybi syndrome: MedlinePlus Genetics08 novembro 2024
-
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™08 novembro 2024
-
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire08 novembro 2024
-
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy08 novembro 2024
-
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics08 novembro 2024
-
Rubinstein-Taybi Syndrome08 novembro 2024
-
Main clinical findings of the 16 Brazilian patients with08 novembro 2024
-
Mosaic CREBBP mutation causes overlapping clinical features of08 novembro 2024
-
Rubinstein-Taybi syndrome in a Saudi boy with distinct features08 novembro 2024
-
New insights into genetic variant spectrum and genotype–phenotype08 novembro 2024
você pode gostar
-
Idle Miner Simulator APK for Android Download08 novembro 2024
-
Marvel's Spider-Man: Miles Morales, PC08 novembro 2024
-
muscular rabbit Pin for Sale by Alex321408 novembro 2024
-
Sonic the Hedgehog 2 - play the free online game08 novembro 2024
-
Call of Duty: Ghosts final PC system requirements released - Polygon08 novembro 2024
-
Super Bear Adventure Secret Backroom Scary Maze08 novembro 2024
-
Dead Island 2 icon ico by hatemtiger on DeviantArt08 novembro 2024
-
Will Byers Stranger things, Stranger things season, Will byers08 novembro 2024
-
Killua Zoldyck Hunter X Hunter Anime Series Hd Matte Finish Poster08 novembro 2024
-
Fleetway Super Sonic08 novembro 2024