Lv1
24 积分 2021-08-31 加入
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations
2天前
已完结
Late‐onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation
27天前
已完结
Variation in high-sensitivity C-reactive protein levels over 24 hours in patients with stable coronary artery disease
1个月前
已完结
Whole‐exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees
1个月前
已完结
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex
2个月前
已完结
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing
2个月前
已完结
Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco–Sjögren syndrome patients
2个月前
已完结
Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD
3个月前
已完结
A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin
3个月前
已完结
皖公网安备34019202002308
