Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Por um escritor misterioso
Last updated 17 abril 2025


PDF) Rubinstein-Taybi syndrome medical guidelines

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

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

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

Rubinstein-Taybi Syndrome - an overview

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

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes - Jezela‐Stanek - 2020 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
Recomendado para você
-
Genes, Free Full-Text17 abril 2025
-
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot17 abril 2025
-
Autism Spectrum Disorder17 abril 2025
-
Rubinstein- Taybi Syndrome Congenital Hand and Arm Differences17 abril 2025
-
JCDR - Rubinstein Taybi Syndrome, Oro-facio-dental findings17 abril 2025
-
Clinical photos of the patients. (a) Case 1: Dysmorphic facial17 abril 2025
-
Rubinstein-Taybi Syndrome by Alexandra Wilegus17 abril 2025
-
RTS National Conference 2023 – UCCEDD17 abril 2025
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP17 abril 2025
-
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP30017 abril 2025
você pode gostar
-
Técnico da França dá bronca em jogador no vestiário por uso de cordão na Copa do Mundo, frança17 abril 2025
-
My I Think You Should Leave screenshot database/meme generator17 abril 2025
-
discord demon fall|Pesquisa do TikTok17 abril 2025
-
O Peão Indomável17 abril 2025
-
Geass GIFs - Get the best gif on GIFER17 abril 2025
-
English dubbed of Kyuukyoku Shinka Shita Full Dive RPG (1-12End) Anime DVD17 abril 2025
-
Lyrics AMV』 Isekai wa Smartphone to Tomo ni. Season 2 OP Full - Real Diamond / Gemstone717 abril 2025
-
Pai de atacante Jô descarta negociação com o Grêmio17 abril 2025
-
Ratchet & Clank 3 Up Your Arsenal [PS2, PS3, Vita] - Sharkigator : Insomniac Games : Free Download, Borrow, and Streaming : Internet Archive17 abril 2025
-
I renovated the Haunted House in Club Roblox! Haunted to Soft17 abril 2025