Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Por um escritor misterioso
Last updated 11 abril 2025


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

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

Deciphering the mutational signature of congenital limb malformations: Molecular Therapy - Nucleic Acids

Genetics and therapy for pediatric eye diseases - eBioMedicine

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

The Smith-Lemli-Opitz syndrome

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

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

PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Recomendado para você
-
Rubinstein–Taybi syndrome - Wikipedia11 abril 2025
-
Genes, Free Full-Text11 abril 2025
-
Facial features of Rubinstein-Taybi syndrome11 abril 2025
-
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome11 abril 2025
-
OMIM diseases as a function of associated HPO phenotypes. Data include11 abril 2025
-
Clinical and molecular findings of the six patients with Rubinstein11 abril 2025
-
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 Library11 abril 2025
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP11 abril 2025
-
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library11 abril 2025
-
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome11 abril 2025
você pode gostar
-
Pixilart - Offline dinosaur game by iicuqtt11 abril 2025
-
Ekko vs Katarina Wild Rift Ranqueada11 abril 2025
-
Christina Ricci cast in Netflix's Addams Family show Wednesday in11 abril 2025
-
Anime and manga characters from bungo stray dogs11 abril 2025
-
project mugetsu money|TikTok Search11 abril 2025
-
Best Tournament Manager - APK Download for Android11 abril 2025
-
WCA Lafayette hosts first football game in school history11 abril 2025
-
Secret Girls Club11 abril 2025
-
Frango xadrez11 abril 2025
-
Classic Cammy in SF6 💚 : r/TwoBestFriendsPlay11 abril 2025