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 24 outubro 2024
Genes, Free Full-Text
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
Examples of exon array comparative genomic hybridization data from four
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
The role of KAT3 proteins in neural development
Recomendado para você
-
Rubinstein-Taybi syndrome: MedlinePlus Genetics24 outubro 2024
-
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author24 outubro 2024
-
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome24 outubro 2024
-
OMIM diseases as a function of associated HPO phenotypes. Data include24 outubro 2024
-
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome24 outubro 2024
-
Microdeletions and mutations of CREBBP (CBP) gene can cause24 outubro 2024
-
Main clinical findings of the 16 Brazilian patients with24 outubro 2024
-
Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome24 outubro 2024
-
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes24 outubro 2024
-
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library24 outubro 2024
você pode gostar
-
Boruto Uzumaki Naruto Uzumaki Himawari Uzumaki Sarada Uchiha Hinata Hyuga, naruto, sasuke Uchiha, personagem fictício, desenho animado png24 outubro 2024
-
Tier list of annoying entities on hard mode (+the rooms' entities24 outubro 2024
-
Headset sony pulse +81 anúncios na OLX Brasil24 outubro 2024
-
Donatella Versace: Queen of Fashion24 outubro 2024
-
Crown 1-K Kerosene, Clean Burning Fuel, 1 Gallon24 outubro 2024
-
Pneu de moto para trilha: conheça os melhores modelos24 outubro 2024
-
Anime DVD Kimetsu no Yaiba: Yuukaku-hen Vol. 1-11 End + 2 Movies ENG SUB24 outubro 2024
-
Playing Online Games Enhances Performance at School24 outubro 2024
-
MBTI® Of The Promised Neverland Characters24 outubro 2024
-
Crocodilo Réptil Personagem Animal Ilustração Desenho Animado24 outubro 2024