Lv21
112 积分 2025-01-14 加入
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome
3小时前
待确认
Alteration of the serotonergic nervous system in fatal familial insomnia
4小时前
已完结
Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing
7天前
已完结
Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia
7天前
已完结
Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations
12天前
已完结
Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generation sequencing
12天前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
21天前
已完结
Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
21天前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
22天前
已完结
Non-lethal congenital hypotonia due to glycogen storage disease type IV
1个月前
已完结
皖公网安备34019202002308
