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100 积分 2024-04-22 加入
GRIN2D variants in three cases of developmental and epileptic encephalopathy
6天前
已完结
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients
22天前
已完结
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
1个月前
已完结
Trio‐whole‐exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations
1个月前
已完结
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
3个月前
已完结
Functional characterization of 21 allelic variants of dihydropyrimidinase
3个月前
已完结
Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation
4个月前
已完结
Does the Rare A172G Mutation of PTPN11 Gene Convey a Mild Noonan Syndrome Phenotype?
4个月前
已完结
TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons
4个月前
已完结
Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy
4个月前
已完结
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