Eva-doreen D. Pfister
Carl Neuberg Str. 1
Hannover, NI 30625, Germany
Hannover, NI 30625, Germany
Last Updated: 09/26/2026
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Found 51 publications
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Journal: American journal of human genetics
Published: December 18, 2025
Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.
Journal: Human genetics
Published: August 19, 2025
A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.
Journal: The Journal of biological chemistry
Published: April 28, 2025
Endoscopic bile duct stenting as preliminary treatment of complicated choledochal malformation before definitive surgery.
Journal: Journal of pediatric gastroenterology and nutrition
Published: February 01, 2025
Clinical Outcomes of Percutaneous Transhepatic Biliary Drainage in Pediatric Patients following Liver Transplantation.
Journal: Pediatric gastroenterology, hepatology & nutrition
Published: January 29, 2024
Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study.
Journal: Children (Basel, Switzerland)
Published: July 18, 2023
The Impact of Thrombophilic Factors on Disease Progression in Children with Biliary Atresia-A Single-Centre Cohort Study.
Journal: Journal of clinical medicine
Published: January 29, 2023
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.
Journal: Clinical genetics
Published: January 19, 2023
Long-Term Outcome Following Liver Transplantation for Primary Hepatic Tumors-A Single Centre Observational Study over 40 Years.
Journal: Children (Basel, Switzerland)
Published: December 02, 2022
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: November 10, 2022
Accumulation of Postoperative Unexpected Events Assessed by the Comprehensive Complication Index® as Prognostic Outcome Parameters for Kasai Procedure.
Journal: Children (Basel, Switzerland)
Published: September 26, 2022
Last Updated: 09/26/2026