Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Por um escritor misterioso
Last updated 21 março 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
-
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS21 março 2025
-
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 open21 março 2025
-
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family21 março 2025
-
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF21 março 2025
-
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library21 março 2025
-
Mosaic CREBBP mutation causes overlapping clinical features of21 março 2025
-
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis21 março 2025
-
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library21 março 2025
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome21 março 2025
-
Rubinstein‐Taybi syndrome in Chinese population with four novel21 março 2025
você pode gostar
-
Want to play Subway Surfers? Play this game online for free on Poki. Lots of fun to play when bored …21 março 2025
-
ORAÇÃO (ANTIGA )PARA GANHAR NO JOGO DO BICHO21 março 2025
-
Tsuki The Saiyan 𝕏 Working on DBGT Perfect Files on X: #DragonBall #ドラゴンボール #DragonBallGT #ドラゴンボールGT Dragon Ball GT Perfect Files 70% traduzido Lembrando que disponibilizarei o guia quando eu chegar a 1k21 março 2025
-
Bacon Hair/bacon Head: A Delicious T-shirt for Roblox Lovers21 março 2025
-
Surfers Paradise Apollo vs Western Pride FC: Live Score, Stream and H2H results 2/11/2017. Preview match Surfers Paradise Apollo vs Western Pride FC, team, start time.21 março 2025
-
Eminem Mockingbird Black & White Feather & Birds Decorative Gift21 março 2025
-
Adesivo Parede Decorativo Roblox21 março 2025
-
FanDuel Sportsbook & Casino21 março 2025
-
Associação de Xadrez de Lisboa - Associação de Xadrez de Lisboa21 março 2025
-
FNF Rainbow Friends But Yellow, Pink, Red Join - Play FNF Rainbow21 março 2025