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40 积分 2025-05-21 加入
CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
3小时前
待确认
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene
2天前
已完结
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency
3天前
已完结
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
3天前
已完结
SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders
5天前
已完结
Genotypes and phenotypes ofDNM1encephalopathy
5天前
已完结
Abnormal axonal development and severe epileptic phenotype in Dynamin‐1 (DNM1) encephalopathy
5天前
已完结
Proteomics and the Risk of Incident Embolic and Thrombotic Stroke
8天前
已完结
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome
9天前
已完结
Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX
12天前
已完结
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