PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report
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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
Protein Lysine Acetylation by p300/CBP
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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
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) New dysmorphic features in Rubinstein-Taybi syndrome
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
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Human genetics and molecular genomics of Chiari malformation type 1: Trends in Molecular Medicine
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
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PDF) 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
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing – topic of research paper in Biological sciences. Download scholarly article
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