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48 积分 2024-12-02 加入
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
17分钟前
待确认
Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China
1个月前
已完结
Prenatal Ultrasonographic Features Associated With ARSL and X‐Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series
2个月前
已完结
Phenotypic variability of the cat eye syndrome. Case report and review of the literature
3个月前
已完结
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
11个月前
已完结
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