Lv3
376 积分 2022-07-18 加入
Clinically Significant Genetic Results in Fetuses With Isolated Horseshoe Kidney
3个月前
已关闭
Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families
4个月前
已完结
A novel homozygous COX6A1 variant causes axonal charcot-marie-tooth disease, developmental delays and mitochondrial dysfunction
4个月前
已关闭
Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies
4个月前
已关闭
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia
7个月前
已完结
Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1
8个月前
已完结
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
10个月前
已完结
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
11个月前
已关闭
Neurodevelopmental Outcomes Prediction in Newborns with Seizures Caused by <i>KCNQ2</i> Gene Defects
11个月前
已完结
Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants
11个月前
已完结
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