Lv11
65 积分 2021-01-13 加入
Neurological symptoms of familial hemophagocytic lymphohistiocytosis type 2
5小时前
已完结
Genetic Screening of Patients with Sporadic Alzheimer’s Disease and Frontotemporal Lobar Degeneration in the Chinese Population
3天前
已完结
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations
4天前
已完结
Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
24天前
已完结
Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias
2个月前
已完结
A novel somatic PLCG2 variant associated with resistance to BTK and SYK inhibition in chronic lymphocytic leukemia
2个月前
已完结
A new low‐penetrance TNFRSF1A mutation causing atypical periodic fever
2个月前
已完结
A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency
2个月前
已完结
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations
2个月前
已完结
Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese
2个月前
已完结
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