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130 积分 2024-05-31 加入
Gene-Disease Relationships in Kidney Genetics
1个月前
已关闭
National-scale genomic diagnosis of rare diseases in China
1个月前
已完结
[Analysis of PDHA1 gene variant in a patient with pyruvate dehydrogenase E1alpha deficiency and pyramidal tract involvement]
3个月前
已完结
Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies
4个月前
已完结
[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients]
4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
4个月前
已完结
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2
4个月前
已完结
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2
4个月前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
5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)
5个月前
已完结
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