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10 积分 2026-01-28 加入
[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review]
2天前
已完结
ASL Perfusion MRI Predicts Cognitive Decline and Conversion From MCI to Dementia
2天前
已完结
ASL Perfusion MRI Predicts Cognitive Decline and Conversion From MCI to Dementia
2天前
已完结
Recurrent Tuberous Sclerosis Complex/Mammalian Target of Rapamycin Mutations Define Primary Renal Hemangioblastoma as a Unique Entity Distinct From Its Central Nervous System Counterpart
4天前
已完结
Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain
18天前
已完结
Challenges towards management of CARD9‐deficient patients with phaeohyphomycosis: A case report and case series study
22天前
已完结
[Clinical phenotype and variantal analysis of a pedigree affected with hereditary coagulation factor V deficiency]
23天前
已完结
5’UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin
24天前
已完结
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities
26天前
已完结
Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations
1个月前
已完结
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