X chromosome cDNA microarray screen of lymphoblasts from males with XLMR
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X chromosome cDNA microarray screen of lymphoblasts from males with XLMR
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创建时间：
2010-06-11
相关数据集
Table_1_Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.XLSX
Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregatin
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish). Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish)
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original
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X chromosome-specific Array-CGH of XLMR patient
Mental retardation (MR) is a non-progressive cognitive impairment affecting 2 to 3% of the Western population. So far, point mutations and subtle deletions and insertions have been shown to represent
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Supplementary Material for: Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review
Introduction: The X-chromosomal USP9X gene encodes a deubiquitylating enzyme involved in protein turnover and TGF-β signaling during fetal and neuronal development. USP9X variants in females are prima
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Additional file 10: of Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
Genotypes obtained from the sequencing data of the targeted tandem repeats in three families with X-linked intellectual disability. (XLSX 2711 kb)
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