PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
Por um escritor misterioso
Last updated 10 novembro 2024
is a platform for academics to share research papers.
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
PDF) Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
PDF) Case Report: Rubinstein-Taybi Syndrome
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith- Kingsmore Syndrome and Rubinstein Taybi Syndrome Type2
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
Recomendado para você
-
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author10 novembro 2024
-
PDF) Rubinstein-Taybi syndrome medical guidelines10 novembro 2024
-
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy10 novembro 2024
-
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome10 novembro 2024
-
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 PDF10 novembro 2024
-
Rubinstein-Taybi syndrome - wikidoc10 novembro 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 Library10 novembro 2024
-
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes10 novembro 2024
-
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect10 novembro 2024
-
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC10 novembro 2024
você pode gostar
-
CÓDIGO DO DINHEIRO INFINITO DICA THE SIMS 4 #thesims4 #ts4 #viral #tik10 novembro 2024
-
Sonic Prime Dash está disponível para jogar grátis na Netflix10 novembro 2024
-
Hoje tem LIVE de Resident Evil 7 no TecMundo Games às 14h! Acompanhe aqui10 novembro 2024
-
Buy Doodle Jump 5 inch Figure - Space Online at Low Prices in10 novembro 2024
-
Cammy Ultra Street Fighter 4 moves list, strategy guide, combos10 novembro 2024
-
NCT 127 - Gimme Gimme (TRADUÇÃO) - Ouvir Música10 novembro 2024
-
Anime vs Reddit (the Rock reaction meme)10 novembro 2024
-
Papelaria Médica | Anamnese Nutricional10 novembro 2024
-
Xadrez Star WARS - Planeta Agostini Montijo • OLX Portugal10 novembro 2024
-
Prince of Persia: The Sands of Time - Full Game Walkthrough10 novembro 2024