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70 积分 2024-10-16 加入
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease
3天前
已完结
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
10天前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
11天前
已完结
Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India
15天前
已完结
Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center
1个月前
已关闭
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
2个月前
已关闭
Generation of an induced pluripotent stem cell line (FDCHI007-A) derived from a patient with developmental and epileptic encephalopathy Type 31 carrying heterozygous c.545C > A mutation in DNM1 gene
2个月前
已关闭
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing
2个月前
已完结
Genotypes and phenotypes ofDNM1encephalopathy
2个月前
已完结
Progressive Myoclonus Epilepsy and Beyond: Systematic Review of SEMA6B-Related Disorders
2个月前
已完结
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