Lv2
140 积分 2024-11-02 加入
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy
7天前
已完结
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
9天前
已关闭
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
22天前
已完结
CPC14 Winning streak: a case of congenital ichthyosiform erythroderma
23天前
已关闭
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies
23天前
已完结
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
23天前
已完结
Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation
23天前
已关闭
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
24天前
已完结
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
24天前
已完结
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families
1个月前
已关闭
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