Lv41
508 积分 2022-03-21 加入
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
1个月前
已完结
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
1个月前
已完结
Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency
1个月前
已完结
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
1个月前
已完结
Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa
8个月前
已完结
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION
8个月前
已关闭
[Triploidy syndrome: a case report]
8个月前
已关闭
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
8个月前
已完结
The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes
8个月前
已关闭
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency
9个月前
已完结
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