Lv3
262 积分 2023-12-04 加入
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
1个月前
已完结
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study
1个月前
已完结
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family
2个月前
已完结
Outcome and etiology of fetal pleural effusion, fetal ascites and hydrops fetalis after fetal intervention: retrospective observational cohort from a single institution
3个月前
已完结
Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?
3个月前
已关闭
Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities
4个月前
已完结
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
4个月前
已完结
Prevalence of Intersex/Differences in Sex Development and Primary Gonadal Insufficiency in a Pediatric Transgender Population
4个月前
已关闭
Prevalence of Intersex/Differences in Sex Development and Primary Gonadal Insufficiency in a Pediatric Transgender Population
4个月前
已关闭
Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in pediatric Inflammatory Bowel Disease: clinical characteristics and outcomes
5个月前
已完结
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