PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report
Por um escritor misterioso
Last updated 15 junho 2024
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain
Rubinstein-Taybi Syndrome
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
IJMS, Free Full-Text
The landscape of tolerated genetic variation in humans and primates
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
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
Recomendado para você
-
Rubinstein–Taybi syndrome - Wikipedia15 junho 2024
-
Rubinstein-Taybi syndrome: Dental manifestations and management15 junho 2024
-
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document15 junho 2024
-
Clinical and molecular findings of the six patients with Rubinstein15 junho 2024
-
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family15 junho 2024
-
Rubinstein-Taybi Syndrome15 junho 2024
-
Genes involved in histone acetylation known to cause rare diseases15 junho 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 Library15 junho 2024
-
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes15 junho 2024
-
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis15 junho 2024
você pode gostar
-
☠⛓Reynyaⁿʸᵃ⛓☠️ on X: Recently I've been watching Mahou15 junho 2024
-
CAVSOC • London Chessboxing15 junho 2024
-
Samsung Galaxy S21 Ultra 5G, 512GB Black - Unlocked15 junho 2024
-
Jogo de Pedras para Damas 6657.615 junho 2024
-
Instagram photo by IShowSpeed • Nov 5, 2021 at 2:47 PM15 junho 2024
-
Horizon Forbidden West Launch Edition PlayStation 4 3006228 - Best Buy15 junho 2024
-
Stream Pretty Girls Walk X Crazy In Love (DJFESTO Mashup) by djfesto15 junho 2024
-
Possessão demoníaca: de onde vem a voz do Diabo? - Mega Curioso15 junho 2024
-
▷ PRA NADIR È DESAFIADA PELO ATEU JASON FERRER,VEJA O QUE ACONTECEU » Domiplay15 junho 2024
-
Anime - Página 130 – Quiz e Testes de Personalidade15 junho 2024