Lv1
80 积分 2022-11-09 加入
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes
1个月前
已完结
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
MCAD deficiency in Denmark
2个月前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
2个月前
已完结
[Analysis of a patient with primary ciliary dyskinesia caused by DNAH5 variants]
2个月前
已完结
[ABCC8 gene analysis, treatment and follow-up of an infant with neonatal diabetes mellitus]
2个月前
已完结
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
2个月前
已完结
Hypokalemic rhabdomyolysis in a child with Gitelman’s syndrome
2个月前
已完结
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
3个月前
已完结
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