Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

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Last updated 21 setembro 2024
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Filippi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
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
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Recombinant Human CREB-binding protein(CREBBP),partial - Cusabio
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Lysine Acetylation and Deacetylation in Brain Development and Neuropathies - ScienceDirect

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