First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open
Por um escritor misterioso
Last updated 01 fevereiro 2025
Identification of de novo EP300 and PLAU variants in a patient
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
PDF) First case report of inherited Rubinstein-Taybi syndrome
PDF) First case report of inherited Rubinstein-Taybi syndrome
PDF) First case report of inherited Rubinstein-Taybi syndrome
First case report of inherited Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
CREBBP mutations in individuals without Rubinstein–Taybi syndrome
Rubinstein–Taybi syndrome: clinical and molecular overview
PDF) First case report of inherited Rubinstein-Taybi syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Recomendado para você
-
Rubinstein-Taybi syndrome: MedlinePlus Genetics01 fevereiro 2025
-
Exon deletions of the EP300 and CREBBP genes in two children with01 fevereiro 2025
-
Rubinstein–Taybi syndrome European Journal of Human Genetics01 fevereiro 2025
-
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome01 fevereiro 2025
-
Clinical and molecular findings of the six patients with Rubinstein01 fevereiro 2025
-
PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients01 fevereiro 2025
-
Rubinstein-Taybi Syndrome: A Rare Case Report01 fevereiro 2025
-
Rubinstein-Taybi syndrome - wikidoc01 fevereiro 2025
-
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics01 fevereiro 2025
-
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 Library01 fevereiro 2025
você pode gostar
-
Book Now Published! 16 MBTI: The INTJ Personality in Love and Relationships – INTJ Signs of Love and How to Attract INTJs Love Advice and Personal Stories by INTJ's and Loved Ones – Moosmosis01 fevereiro 2025
-
Take That's 20 greatest songs – ranked!, Take That01 fevereiro 2025
-
Drifters Anime Stickers for Sale01 fevereiro 2025
-
Pase de temporada de Assassin's Creed® Valhalla01 fevereiro 2025
-
Jogo De Cozinha Em Crochê 5 Modelos Fácil E Lucrativo - CROCHÊ COM AMOR01 fevereiro 2025
-
Zoo Tycoon 2 - Ultimate Collection (USA) : Blue Fang Games : Free01 fevereiro 2025
-
Powerwolf - The Metal Mass: Live Review - Heavy Music HQ01 fevereiro 2025
-
Minecraft' Content Creators Ranboo, Tubbo Sign With Misfits Gaming – Deadline01 fevereiro 2025
-
┊↻ ❝ 𝙍𝙖𝙘𝙝𝙚𝙡 ❞ ҂01 fevereiro 2025
-
flork meme01 fevereiro 2025