Lv42
500 积分 2025-05-17 加入
Joubert syndrome caused by a TMEM67 mutation: Genotype-phenotype analysis
24天前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
24天前
已完结
Clinical and genetic findings in an Iraqi family with TMEM67-associated Joubert syndrome
24天前
已完结
Clinical and genetic findings in an Iraqi family with TMEM67-associated Joubert syndrome
24天前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
1个月前
已完结
Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism
2个月前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
2个月前
已完结
Congenital and infantile nephrotic syndrome: genotype-phenotype associations
2个月前
已关闭
Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome
2个月前
已关闭
Branched-chain amino acid catabolic defect promotes α-cell proliferation via activating mTOR signaling
2个月前
已完结
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