Lv75
3240 积分 2024-11-14 加入
Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91
15天前
已完结
De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia
15天前
已完结
Pathogenesis of Haemophilia in 20 Women and Girls
29天前
已完结
10个甲型血友病家系FⅧ基因突变分析
29天前
已完结
Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
29天前
已完结
[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi]
1个月前
已完结
Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset
1个月前
已完结
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
1个月前
已完结
Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
2个月前
已完结
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