Lv75
4220 积分 2021-09-01 加入
Chinese expert consensus on genetic counseling and transfer strategies of mosaic embryos in PGT-A
2个月前
已完结
Diagnostic and clinical utility of genetic testing in children with kidney failure
4个月前
已完结
High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering
4个月前
已完结
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome
4个月前
已完结
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides
4个月前
已完结
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing
4个月前
已完结
Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification
4个月前
已完结
Clinical features of children with anti-CFH autoantibody-associated hemolytic uremic syndrome: a report of 8 cases
4个月前
已完结
Hereditary spherocytosis complicated by intrahepatic cholestasis: two case reports
4个月前
已完结
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy
4个月前
已完结
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