Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Por um escritor misterioso
Last updated 27 abril 2025


Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Rubinstein-Taybi syndrome: MedlinePlus Genetics

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

CBP Histone Acetyltransferase Activity Regulates Embryonic Neural Differentiation in the Normal and Rubinstein-Taybi Syndrome Brain: Developmental Cell

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

CBP Histone Acetyltransferase Activity Regulates Embryonic Neural Differentiation in the Normal and Rubinstein-Taybi Syndrome Brain: Developmental Cell

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

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

Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients - Spena - 2015 - Clinical Genetics - Wiley Online Library

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome

CBP Histone Acetyltransferase Activity Regulates Embryonic Neural Differentiation in the Normal and Rubinstein-Taybi Syndrome Brain: Developmental Cell
Recomendado para você
-
Congenital glaucoma as a presenting feature of Rubinstein-Taybi27 abril 2025
-
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics27 abril 2025
-
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder27 abril 2025
-
PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report27 abril 2025
-
Rubinstein-Taybi Syndrome: A Rare Case Report27 abril 2025
-
About - DECIPHER v11.2327 abril 2025
-
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 Library27 abril 2025
-
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library27 abril 2025
-
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of27 abril 2025
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein27 abril 2025
você pode gostar
-
Palkia VSTAR League Battle Deck Cards Revealed! (Pokemon TCG News + Deck List)27 abril 2025
-
inflation p and g alphabet lore27 abril 2025
-
Atacadão Barreiras: Encarte, Lojas & Horários27 abril 2025
-
Brazilian Army [B.A] - Roblox27 abril 2025
-
CLUBE PORTUGUÊS DE NITERÓI27 abril 2025
-
World Chess Championship 2016 - Wikipedia27 abril 2025
-
United Mods Archives - APK Avenue27 abril 2025
-
Madness Combat Defence (@DefenceMadness) / X27 abril 2025
-
Capa Anti Poeira e Skin Compatível PS4 Pro - Naruto Akatsuki - Pop Arte Skins - Capa para PS4 - Magazine Luiza27 abril 2025
-
Subway Suffer - Impossible Run27 abril 2025