Lv2
110 积分 2026-03-11 加入
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
2个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
2个月前
已完结
Low-level mosaic trisomy 12 at amniocentesis in a pregnancy associated with complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
2个月前
已完结
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia
2个月前
已完结
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants
2个月前
已完结
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
3个月前
已完结
Prenatal diagnosis of trisomy 12 mosaicism: normal development of a 3 years old female child
3个月前
已关闭
Trisomy 12 mosaicism
3个月前
已完结
Low-level mosaic trisomy 12 at amniocentesis in a pregnancy associated with complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
3个月前
已完结
Mosaicism for trisomy 12: Four cases with varying outcomes
3个月前
已完结
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