Lv1
38 积分 2023-07-04 加入
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
24天前
已完结
Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens
1个月前
已完结
Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies
1个月前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
2个月前
已完结
The clinical and genetic characteristics in children with mitochondrial disease in China
2个月前
已完结
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations
2个月前
已完结
Hypophosphatasia as a rare cause of neonatal seizures
3个月前
已完结
Hypophosphatasia as a rare cause of neonatal seizures
3个月前
已完结
TRIT1 deficiency: Two novel patients with four novel variants
4个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
8个月前
已完结
皖公网安备34019202002308
