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蓝莓酱
Lv7
18
4260 积分
2020-04-06 加入
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
2个月前
已完结
Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation
2个月前
已完结
A novel PLS1 c.981+1G>A variant causes autosomal‐dominant hereditary hearing loss in a family
2个月前
已完结
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
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Pathologic whole exome sequencing analysis in fetuses with minor sonographic abnormal findings and normal chromosomal microarray analysis: case series
3个月前
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Novel KCNC2 variant associated with developmental and epileptic encephalopathy
4个月前
已完结
Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3–COL4A5) and Their Association With Other Kidney Conditions: A Review
4个月前
已完结
Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
4个月前
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Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation
5个月前
已完结
Uniparental disomy: Origin, frequency, and clinical significance
5个月前
已完结
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