Lv21
110 积分 2024-05-31 加入
[Analysis of PDHA1 gene variant in a patient with pyruvate dehydrogenase E1alpha deficiency and pyramidal tract involvement]
7小时前
已完结
Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies
27天前
已完结
[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients]
1个月前
已关闭
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience
1个月前
已完结
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2
1个月前
已完结
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2
1个月前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
2个月前
已完结
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)
2个月前
已完结
Management of Atopy with Dupilumab and Omalizumab in CADINS Disease
2个月前
已完结
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
2个月前
已完结
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