Lv33
285 积分 2021-01-13 加入
Clinicopathological features of titinopathy from a Chinese neuromuscular center
1个月前
已完结
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation
1个月前
已完结
Neurological symptoms of familial hemophagocytic lymphohistiocytosis type 2
1个月前
已完结
Genetic Screening of Patients with Sporadic Alzheimer’s Disease and Frontotemporal Lobar Degeneration in the Chinese Population
2个月前
已完结
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations
2个月前
已完结
Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
2个月前
已完结
Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias
3个月前
已完结
A novel somatic PLCG2 variant associated with resistance to BTK and SYK inhibition in chronic lymphocytic leukemia
4个月前
已完结
A new low‐penetrance TNFRSF1A mutation causing atypical periodic fever
4个月前
已完结
A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency
4个月前
已完结
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