Lv5
910 积分 2023-12-01 加入
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia-like phenotype
3天前
已完结
Clinical and genetic features of patients suffering from CMT4J
16天前
已完结
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study
18天前
已完结
Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center
1个月前
已完结
Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency
1个月前
已完结
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
1个月前
已完结
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine
1个月前
已完结
Clinical and genetic investigation in patients with permanent congenital hypothyroidism
1个月前
已完结
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7
1个月前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
1个月前
已完结
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