Lv11
62 积分 2023-09-15 加入
Association of TRMT2B gene variants with juvenile amyotrophic lateral sclerosis
5小时前
待确认
A novel DHTKD1 gene mutation with ALS like presentation: a case report
2天前
已完结
Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4
8天前
已完结
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
13天前
已完结
Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction
14天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
29天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
The complexity of kidney disease secondary to collagen IV variants: insights into phenotypic variability from a large Sicilian pedigree
1个月前
已完结
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery
1个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
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