Lv2
160 积分 2021-12-20 加入
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome
2天前
已完结
Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis)
4天前
已关闭
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations
5天前
已关闭
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
13天前
已完结
Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing
13天前
已关闭
Atlas of the clinical genetics of human dilated cardiomyopathy
17天前
已完结
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
18天前
已完结
Nonsense Mutations in BAG3 are Associated With Early-Onset Dilated Cardiomyopathy in French Canadians
18天前
已关闭
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
19天前
已完结
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
19天前
已完结
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