rubinstein taybi omim
Mais recente
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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
08 maio 2024 -
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
08 maio 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
08 maio 2024 -
IJMS, Free Full-Text
08 maio 2024 -
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
08 maio 2024 -
Forgotten Diseases Research Foundation
08 maio 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
08 maio 2024 -
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
08 maio 2024 -
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document
08 maio 2024 -
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
08 maio 2024 -
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
08 maio 2024 -
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
08 maio 2024 -
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
08 maio 2024 -
Congenital glaucoma as a presenting feature of Rubinstein-Taybi
08 maio 2024 -
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
08 maio 2024 -
Chemical and genetic rescue of an ep300 knockdown model for
08 maio 2024 -
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
08 maio 2024 -
Exon deletions of the EP300 and CREBBP genes in two children with
08 maio 2024 -
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
08 maio 2024 -
Microdeletions and mutations of CREBBP (CBP) gene can cause
08 maio 2024
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