Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
Por um escritor misterioso
Last updated 19 março 2025


Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

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

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Clinical photos of the patients. (a) Case 1: Dysmorphic facial features

Rubinstein-Taybi Syndrome: A case report

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect

From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein– Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks - Negri - 2016 - Human Mutation - Wiley Online Library

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

Psychiatric Profile in Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals

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 open

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Recomendado para você
-
Ocular features in Rubinstein-Taybi syndrome: investigation of 2419 março 2025
-
Rubinstein-Taybi Syndrome19 março 2025
-
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™19 março 2025
-
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An19 março 2025
-
The Ridenour Family - RareKC19 março 2025
-
Congenital glaucoma as a presenting feature of Rubinstein-Taybi19 março 2025
-
High frequency of copy number imbalances in Rubinstein–Taybi19 março 2025
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome19 março 2025
-
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of19 março 2025
-
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications19 março 2025
você pode gostar
-
Ratchet & Clank Future: Tools of Destruction - PlayStation 319 março 2025
-
False Confession [Comic] [Romance] - Tappytoon Comics & Novels19 março 2025
-
SCP Three Arrows Black Logo transparent PNG - StickPNG19 março 2025
-
❤ A Vida pulsa na Shakespeare ❤ - Escola Shakespeare19 março 2025
-
Contexto dos desenhos animados anime pocoyo tema fotografia adereços pano de fundo festa de aniversário decoração banner vinil presente de natal - AliExpress19 março 2025
-
guts and griffith #berserk #berserkedit #berserkmanga #gutsberserk19 março 2025
-
SPACETREK66 - DVD JOGOS MORTAIS 4 - ANGUS MACFADYEN19 março 2025
-
THE LAST OF US™ REMASTERED - PS4 MÍDIA DIGITAL - LS Games19 março 2025
-
Eggplant - Pizza Tower Wiki19 março 2025
-
The Legend Of Zelda: Skyward Sword Hd - Nintendo Switch : Target19 março 2025