Lv1
30 积分 2023-07-04 加入
Newborn screening of maple syrup urine disease and the effect of early diagnosis
13天前
已完结
The clinical and genetic characteristics in children with mitochondrial disease in China
29天前
已完结
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations
1个月前
已完结
Hypophosphatasia as a rare cause of neonatal seizures
1个月前
已完结
Hypophosphatasia as a rare cause of neonatal seizures
1个月前
已完结
TRIT1 deficiency: Two novel patients with four novel variants
2个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
6个月前
已完结
Whole Exome Sequencing in Fetal Cardiac Rhabdomyoma Detected by Ultrasonography: An Analysis of 12 Cases
6个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
6个月前
已完结
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling
6个月前
已完结
皖公网安备34019202002308
