rubinstein taybi omim
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
15 outubro 2024 -
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
15 outubro 2024 -
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
15 outubro 2024 -
Rubinstein-Taybi syndrome - wikidoc
15 outubro 2024 -
Growth charts for individuals with Rubinstein–Taybi syndrome - Beets - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
15 outubro 2024 -
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
15 outubro 2024 -
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
15 outubro 2024 -
A novel CREBBP mutation and its phenotype in a case of Rubinstein
15 outubro 2024 -
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
15 outubro 2024 -
Rubinstein-Taybi Syndrome 1
15 outubro 2024 -
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
15 outubro 2024 -
IJMS, Free Full-Text
15 outubro 2024 -
Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome
15 outubro 2024 -
OMIM diseases as a function of associated HPO phenotypes. Data include
15 outubro 2024 -
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
15 outubro 2024 -
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
15 outubro 2024 -
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
15 outubro 2024 -
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 Library
15 outubro 2024 -
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
15 outubro 2024 -
Microdeletions and mutations of CREBBP (CBP) gene can cause
15 outubro 2024