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 22 dezembro 2024
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
PDF) Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Genes, Free Full-Text
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
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) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Recomendado para você
-
Rubinstein-Taybi syndrome: Dental manifestations and management22 dezembro 2024
-
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author22 dezembro 2024
-
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients22 dezembro 2024
-
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy22 dezembro 2024
-
Rubinstein-Taybi Syndrome22 dezembro 2024
-
PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients22 dezembro 2024
-
Rubinstein-Taybi Syndrome: A Rare Case Report22 dezembro 2024
-
Main clinical findings of the 16 Brazilian patients with22 dezembro 2024
-
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine22 dezembro 2024
-
Growth charts for individuals with Rubinstein–Taybi syndrome - Beets - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library22 dezembro 2024
você pode gostar
-
Kubota Yoshinobu - Character (80869) - AniDB22 dezembro 2024
-
Monster Concursos22 dezembro 2024
-
Online Ludo Game Multiplayer for Android - Free App Download22 dezembro 2024
-
Guile Win Quote Street Fighter II22 dezembro 2024
-
Cave Hill Country Park in Belfast - Tours and Activities22 dezembro 2024
-
Pokemon Crowned Sword Zacian – Pixelmon Reforged Wiki22 dezembro 2024
-
Minecraft: Xbox 360 Edition22 dezembro 2024
-
Assistir Dead Mount Death Play Episódio 9 Online - Animes BR22 dezembro 2024
-
Big Five soccer leagues revenue 202222 dezembro 2024
-
who made the song dale moreno|TikTok Search22 dezembro 2024