Lv41
410 积分 2025-04-29 加入
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
5小时前
已完结
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities
7小时前
已完结
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
2天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
1个月前
已完结
A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family
1个月前
已关闭
A novel HNF4A mutation identified in a child with maturity onset diabetes of the young
1个月前
已完结
Pheochromocytoma in von Hippel‐Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma
1个月前
已完结
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort
1个月前
已完结
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