Lv1
40 积分 2023-12-29 加入
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia
1天前
待确认
BSEP andMDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis
2天前
求助中
Clinical and genetic insights into ABCA12 variants in three Chinese families with ichthyosis: Genotype–phenotype correlation
1个月前
已完结
[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1]
1个月前
已完结
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
1个月前
已完结
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria
1个月前
已完结
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%
2个月前
已完结
Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology
2个月前
已完结
[Approaches to detect the gene mutations in autosomal recessive Alport's syndrome: analysis of a family]
2个月前
已完结
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
3个月前
已完结
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