Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Por um escritor misterioso
Last updated 18 dezembro 2024
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
IJMS, Free Full-Text
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
Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development
Rubinstein–Taybi syndrome - Wikipedia
Perspectives on the future of dysmorphology - Solomon - 2023 - 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
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
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