The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
Por um escritor misterioso
Last updated 09 setembro 2024
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
PDF) Identical But Not the Same: The Value of Discordant Monozygotic Twins in Genetic Research
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 Library
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein–Taybi syndrome European Journal of Human Genetics
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
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