官方服务：
资源简介：
Gene expression profiling of Kleefstra syndrome
应用场景：
创建时间：
2024-05-24
相关数据集
Transcriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures
In this study we performed the first global RNA-seq analysis in 54 ichthyosis patients (7 Netherton syndrome/NS, 13 epidermolytic ichthyosis/EI, 16 lamellar ichthyosis/LI, 18 congenital ichthyosiform
NIAID Data Ecosystem70
Additional file 5 of Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease
Additional file5: Table S2. Table results of the gene set expression analysis for lymphangiogenesis showing the affected genes in the RNA-seq expression and their contribution to the pathway.
Figshare2022-06-07 更新50
Molecular signature of Schinzel-Giedion syndrome in human neural progenitors. Molecular signature of Schinzel-Giedion syndrome in human neural progenitors
Schinzel-Giedion syndrome (SGS) is a developmental syndrome, due to the accumulation of SETBP1 protein, which is fatal in early infancy. SGS has a multi-organ involvement with severe and persistent in
NIAID Data Ecosystem40
Additional file 4 of Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency
Additional file 4. List of protein coding genes deregulated in ACDMPV lungs. Case grouping is described in Additional file 1.
Figshare2021-07-28 更新60
Structure of OCNDS-related CK2alpha variant F197I
The Okur-Chung neurodevelopment syndrome is a rare disease caused by mutations of the CSNK2A1 gene, which encodes for the catalytic subunit of protein kinase CK2. in this study, we analyzed the most c
DataCite Commons2026-05-14 更新40
