Lv42
650 积分 2022-11-29 加入
Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach
1个月前
已完结
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis
1个月前
已完结
Diagnostic yield of whole exome sequencing in adult-onset cholestatic liver disease
1个月前
已关闭
The ``ABC'' of genetics in cholestatic liver diseases
1个月前
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Large Scale Genomic Investigation of Pediatric Cholestasis Reveals a Novel Hepatorenal Ciliopathy Caused by PSKH1 Mutations
1个月前
已完结
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children
1个月前
已完结
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome
1个月前
已完结
INFANTILE EPILEPTIC SPASMS SYNDROME: UNVEILING CLINICAL AND GENETIC VARIABILITY IN A CASE SERIES FROM ARGENTINA
2个月前
已完结
Infantile spasms: Assessing the diagnostic yield of an institutional guideline and the impact of etiology on long‐term treatment response
2个月前
已完结
Diagnostic yields of genetic testing and related benefits in infantile epileptic spasms syndrome: A systematic review and meta-analysis
2个月前
已关闭
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