Lv74
5000 积分 2021-09-01 加入
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome
20天前
已完结
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia
3个月前
已完结
Chinese expert consensus on genetic counseling and transfer strategies of mosaic embryos in PGT-A
7个月前
已完结
Diagnostic and clinical utility of genetic testing in children with kidney failure
9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
9个月前
已完结
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome
9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
9个月前
已完结
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing
9个月前
已完结
Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification
9个月前
已完结
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