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 Library
Por um escritor misterioso
Last updated 11 abril 2025


Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability - Hussain - The Journal of Gene Medicine - Wiley Online Library

PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf

PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library

Examples of exon array comparative genomic hybridization data from four

Genes, Free Full-Text

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
Recomendado para você
-
Rubinstein-Taybi syndrome: MedlinePlus Genetics11 abril 2025
-
Rubinstein-Taybi Syndrome 111 abril 2025
-
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™11 abril 2025
-
Congenital glaucoma as a presenting feature of Rubinstein-Taybi11 abril 2025
-
IJMS, Free Full-Text11 abril 2025
-
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics11 abril 2025
-
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis11 abril 2025
-
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine11 abril 2025
-
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library11 abril 2025
-
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes11 abril 2025
você pode gostar
-
Os treinos do GP do Japão - Ao Vivo - Fórmula 1 - Terra11 abril 2025
-
8/5 (Thu) Update Content - Part 211 abril 2025
-
Isekai Meikyuu de Harem wo Episode 2 EnglishSub - BiliBili11 abril 2025
-
BABYXSOSA - EVERYWHEREIGO (TikTok Remix) Lyrics11 abril 2025
-
Best Monkey Memes! Monkeys funny, Monkey memes, Funny monkey11 abril 2025
-
yua serufu (megami magazine and 1 more) drawn by sumimoto_etsuko11 abril 2025
-
6IV Shiny Eternatus, Shiny Zacian, and Shiny Zamazenta Legendary11 abril 2025
-
Deck Block, Takes 4 x 4 Post - Concrete Blocks - The Home11 abril 2025
-
IBGE - Jogo de Perguntas11 abril 2025
-
The 50 Best Esports Blogs to Read in 202311 abril 2025