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Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.
International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts.
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy.
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.