Lv3
358 积分 2024-02-20 加入
Network-based analysis on the genes and their interactions reveals link between schizophrenia and Alzheimer's disease
24天前
已完结
The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits
26天前
已完结
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
1个月前
已关闭
Genetic Association of Lipids and Lipid-Lowering Drug Target Genes With Attention Deficit Hyperactivity Disorder
1个月前
已完结
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
2个月前
已完结
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1
2个月前
已完结
Impact of Laboratory-Driven Proactive Reanalysis: Reclassification to Positive in 5% of Initially Negative or Uncertain Exome Sequencing Cases
2个月前
已关闭
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort
2个月前
已关闭
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
2个月前
已完结
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1
3个月前
已完结
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