Volume: 29 Issue: 20

1. Application of gene capture technology combined with next generation sequencing technology on methylmalonic acidemia Page:1548—1551
2. Karyotyping analysis of 396 newborns with congenital malformations and chromosomal abnormalities and the associated phenotypes Page:1560—1563
3. Clinical features and genetic analysis of 17 cases of glucose-6-phosphate dehydrogenase deficiency in Guizhou province Page:1564—1567
4. Clinical analysis of 9 children with Pseudo-Bartter syndrome Page:1571—1574
5. Expression of FAS and FASL in brain of sodium valproate induced autism rats Page:1575—1577
6. Impact of the peripheral neurotomy method combined with rehabilitation exercise on gross motor function and balance function of children with cerebral palsy Page:1578—1582
7. Clinical analysis of tufted angiomas in infants Page:1583—1586
8. Study on the copy number variations of neural tube defect animal model with folate dysmetabolism Page:1534—1538
9. Clinical features and CYBB gene mutation analysis of chronic granulomatous disease in 6 neonate infants Page:1556—1559
10. Research on mutations in exon 6 of phenylalanine hydroxylase gene in Ningxia childhood patients Page:1568—1570
11. Update on the molecular pathogenesis of intrauterine growth retardation Page:1521—1522
12. Progress of association between gene mutations, polymorphisms of growth hormone receptor and idiopathic short stature Page:1523—1525
13. Research development of short stature homeobox containing gene in short stature Page:1526—1527
14. Study progress of insulin-like growth factor receptor type 1 gene mutation and short stature Page:1528—1530
15. Diagnosis and treatment of Noonan syndrome Page:1531—1533