Lv2
180 积分 2023-04-14 加入
Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism
3天前
已完结
Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism
7天前
已完结
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India
7天前
已完结
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
13天前
已完结
First report of tethered cord syndrome in a patient with Verheij syndrome
17天前
已完结
PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
17天前
已完结
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies
22天前
已完结
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
23天前
已关闭
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies
23天前
已关闭
Cystinuria: an update on pathophysiology, genetics, and clinical management
24天前
已完结
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