Lv11
100 积分 2024-08-27 加入
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience
1小时前
待确认
Duplication of the terminal band of the long arm of chromosome 7: a new case
1小时前
求助中
Duplication of the distal part of the long arm of chromosome 1
1小时前
已关闭
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
28天前
已完结
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing
1个月前
已完结
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
2个月前
已完结
Subset of retinoblastoma tumours is associated withBRCA1/2mutations
2个月前
已完结
FSH Receptor Variant: An Unusual Cause of Secondary Amenorrhea
2个月前
已完结
Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum
2个月前
已完结
Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian–Azeri–Turkish Family With Global Developmental Delay
3个月前
已完结
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