Lv7
5000 积分 2020-04-06 加入
科研小黑
Prenatal Ultrasonographic Features Associated With ARSL and X‐Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series
2个月前
已完结
miR-199a-5p modulates choroidal neovascularization by regulating Wnt7b/Wnt/β-catenin signaling pathway
7个月前
已完结
Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy
10个月前
已完结
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
1年前
已完结
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
1年前
已完结
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
1年前
已完结
Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation
1年前
已完结
A novel PLS1 c.981+1G>A variant causes autosomal‐dominant hereditary hearing loss in a family
1年前
已完结
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
1年前
已完结
Pathologic whole exome sequencing analysis in fetuses with minor sonographic abnormal findings and normal chromosomal microarray analysis: case series
1年前
已完结
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