Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

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Last updated 12 abril 2025
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
PDF) New dysmorphic features in Rubinstein-Taybi syndrome
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
CBP deficiency leads to HMT-mediated epigenetic modification. Induction
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Genes, Free Full-Text
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Microdeletions and mutations of CREBBP (CBP) gene can cause
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Microdeletions and mutations of CREBBP (CBP) gene can cause
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Characterization of 14 novel deletions underlying Rubinstein–Taybi  syndrome: an update of the CREBBP deletion repertoire
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