Lv3
270 积分 2025-12-22 加入
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
1天前
待确认
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
2天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2天前
已完结
Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia
2天前
已完结
Unmasking the genetic heterogeneity of cystic fibrosis in the Torbat Jam region: From common variants to large deletions and the challenge of missing heritability
4天前
已关闭
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
4天前
已完结
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
7天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
16天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
17天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
17天前
已完结
Neck Circumference Measurement for Surveillance and Early Detection of Hemorrhage After Thyroidectomy: A Diagnostic Accuracy Study
2天前
已采纳
Design, synthesis, and properties of N -annulated perylene-embedded carbon nanorings
1个月前
已采纳
The moral identity profiles of inspiring social studies teachers
3个月前
已采纳
Identification of a novel inhibitor of SARS‐CoV ‐2 main protease: an in silico , biochemical, and cell‐based approach
6个月前
已采纳
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