Lv11
30 积分 2025-03-06 加入
Subset of retinoblastoma tumours is associated withBRCA1/2mutations
7小时前
待确认
A comprehensive genotype-phenotype study in 203 individuals with retinoblastoma
7小时前
待确认
Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria
30天前
已关闭
Genetic arrhythmias complicating patients with dilated cardiomyopathy
1个月前
已完结
Genetic arrhythmias complicating patients with dilated cardiomyopathy
1个月前
已完结
MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW
2个月前
已关闭
Identification and functional characterization of novel variants of MAPT and GRN in Chinese patients with frontotemporal dementia
3个月前
已完结
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform
4个月前
已完结
Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome
4个月前
已完结
A novel compound heterozygous EPM2A variant in a Chinese family with Lafora disease
5个月前
已完结
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