Lv4
626 积分 2022-01-12 加入
[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]
8天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
8天前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
17天前
已完结
应用外显子结合目标区域捕获测序芯片检测视网膜色素变性的致病基因
17天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
1个月前
已完结
Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2个月前
已完结
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
2个月前
已完结
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline
2个月前
已完结
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
2个月前
已完结
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