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140 积分 2024-06-19 加入
Clinical and genetic investigation in patients with permanent congenital hypothyroidism
4小时前
已完结
Clinical and genetic investigation in patients with permanent congenital hypothyroidism
4小时前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
4小时前
已完结
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene
1天前
已关闭
Molecular and Biochemical Studies of Acute Intermittent Porphyria in 196 Patients and Their Families
26天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
27天前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
1个月前
已完结
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
2个月前
已关闭
[Value of blood ammonia on predicting the severity and prognosis of patients with sepsis: a prospective observation study]
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