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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Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
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Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting - Schildt - American Journal of Medical Genetics Part A - Wiley Online Library
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
Perspectives on the future of dysmorphology - Solomon - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
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
Genes, Free Full-Text
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
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
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