Lv1
10 积分 2023-12-22 加入
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
1天前
已完结
A child with febrile and atypical absence seizures caused by a NLGN2 variant
7天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
7天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
7天前
已完结
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals
7天前
已完结
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
7天前
已完结
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
7天前
已完结
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
14天前
已完结
IQGAP3 deficiency leads to non-syndromic hearing loss via inhibition of CDC42 enzyme activity
16天前
已完结
Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study
20天前
已完结
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