Lv2
150 积分 2020-09-21 加入
Crucial role of posttranslational modifications of integrin 3 in interstitial lung disease and nephrotic syndrome
15天前
已完结
Junctional Epidermolysis Bullosa With Pyloric Atresia Complicated by Esophageal Atresia and Nephrotic Syndrome: A Case Report and Review of the Literature
15天前
已完结
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
25天前
已完结
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
1个月前
已完结
Prenatal diagnosis of familial 46,X,del(X)(q27.1) with an Xq27.1-q28 deletion and an Xp22.33 microduplication in an asymptomatic mother carrier
1个月前
已完结
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes
1个月前
已完结
Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy
1个月前
已完结
Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype
1个月前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
2个月前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
2个月前
已完结
皖公网安备34019202002308
