rubinstein taybi omim
Mais recente
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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
01 junho 2024 -
Rubinstein-Taybi syndrome: Dental manifestations and management
01 junho 2024 -
IJMS, Free Full-Text
01 junho 2024 -
Mosaic CREBBP mutation causes overlapping clinical features of
01 junho 2024 -
Chemical and genetic rescue of an ep300 knockdown model for
01 junho 2024 -
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
01 junho 2024 -
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
01 junho 2024 -
Facial features of Rubinstein-Taybi syndrome
01 junho 2024 -
Congenital glaucoma as a presenting feature of Rubinstein-Taybi
01 junho 2024 -
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
01 junho 2024 -
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
01 junho 2024 -
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
01 junho 2024 -
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
01 junho 2024 -
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
01 junho 2024 -
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
01 junho 2024 -
Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared
01 junho 2024 -
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library
01 junho 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
01 junho 2024 -
Rubinstein-Taybi Syndrome - an overview
01 junho 2024 -
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
01 junho 2024
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