Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
Por um escritor misterioso
Last updated 03 fevereiro 2025
IJMS, Free Full-Text
PDF) Case Report: Rubinstein-Taybi Syndrome
PDF) Novel cAMP binding protein-BP (CREBBP) mutation in a girl
Opposing Effects of CREBBP Mutations Govern the Phenotype of
PDF) Rubinstein-Taybi syndrome: Dental manifestations and management
Genetic dissection of Chiari malformation type 1 using
Characterization of 14 novel deletions underlying Rubinstein–Taybi
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Mosaic CREBBP mutation causes overlapping clinical features of
PDF) Case Report: Rubinstein-Taybi Syndrome
Recomendado para você
-
Rubinstein–Taybi syndrome European Journal of Human Genetics03 fevereiro 2025
-
Rubinstein-Taybi syndrome: Dental manifestations and management03 fevereiro 2025
-
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials03 fevereiro 2025
-
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics03 fevereiro 2025
-
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients03 fevereiro 2025
-
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder03 fevereiro 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 Library03 fevereiro 2025
-
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes03 fevereiro 2025
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP03 fevereiro 2025
-
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine03 fevereiro 2025
você pode gostar
-
🔴NOVAS AVENTURAS🔴Amazônia #Enigma fuga da prisão #Prisonscape #PTBr - 00203 fevereiro 2025
-
SplashLearn Math & Reading App – Apps no Google Play03 fevereiro 2025
-
One Piece: comparação entre a série da Netflix e o anime - Mix de Séries03 fevereiro 2025
-
Jogo Pro Evolution Soccer 2011 Pes 2011 (sem Capa) - Psp - U - R$ 49,9903 fevereiro 2025
-
Episódio 4 de The Last of Us da HBO consagra Pedro Pascal03 fevereiro 2025
-
Double Dragon Gaiden Brings Retro To The Modern Era - Cultured03 fevereiro 2025
-
The Chosen One (2019 TV series) - Wikipedia03 fevereiro 2025
-
Jogo de Colorir desenhos para crianças Pintar desenhos - Como Pintar Online03 fevereiro 2025
-
Madeira mão-crafted xadrez conjunto dobrável mini tabuleiro de xadrez crianças adultos jogo de aniversário natal03 fevereiro 2025
-
Д (Russian Alphabet Lore), Scratchpad03 fevereiro 2025