Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
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Last updated 08 novembro 2024
Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A
The missing link between genetic association and regulatory function
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
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
Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
Comparative genomics provides new insights into the remarkable adaptations of the African wild dog (Lycaon pictus)
American J of Med Genetics PT A - 2016 - Lubinsky - Syndromes With Supernumerary Teeth, PDF, Causes Of Death
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
IJMS, Free Full-Text
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