Lv3
390 积分 2023-03-08 加入
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
11小时前
待确认
3-Methylglutaconic aciduria in carriers of primary carnitine deficiency
8天前
已完结
Medium-chain acyl-CoA dehydrogenase deficiency: Genotype–biochemical phenotype correlations
8天前
已完结
Glucose 6‐phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia
29天前
已完结
Wild pedigrees inform mutation rates and historic abundance in baleen whales
29天前
已完结
High level of novelty under the hood of convergent evolution
1个月前
已完结
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations
1个月前
已完结
Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder
1个月前
已完结
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants
1个月前
已完结
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