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Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
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Heterozygous α1-antitrypsin Z allele mutation in presumed healthy donor livers used for transplantation
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Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
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HNF1B deficiency causes ciliary defects in human cholangiocytes
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Noncirrhotic presinusoidal portal hypertension is common in cystic fibrosis-associated liver disease
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An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild Gycogen Storage Disease type Ia
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A seven-gene set associated with chronic hypoxia of prognostic importance in hepatocellular carcinoma
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Porphyria cutanea tarda and liver disease: a retrospective analysis of 17 cases from a single centre and review of the literature
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Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients
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HBx or HCV core gene expression in HepG2 human liver cells results in a survival benefit against oxidative stress with possible implications for HCC development