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170 积分 2024-03-20 加入
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
13小时前
待确认
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation
2个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
[Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene]
2个月前
已完结
[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]
2个月前
已完结
[COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis]
3个月前
已完结
GM1神经节苷脂贮积症患儿的 GLB1基因突变研究
5个月前
已完结
Hyperhomocysteinemia in patients with riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency
5个月前
已完结
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
6个月前
已完结
First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
6个月前
已完结
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