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JHEP Reports : Innovation in Hepatology|September 13, 2023
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapyEmmanuel Gonzales, Antoine Gardin, Marion Almes, et al.
Lancet (London, England)|November 10, 2021
Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 studyEmmanuel Gonzales, Winita Hardikar, Michael Stormon, et al.
American Journal of Respiratory and Critical Care Medicine|April 16, 2024
Disrupted BMP-9 Signaling Impairs Pulmonary Vascular Integrity in Hepatopulmonary SyndromeFabien Robert, Marie-Caroline Certain, Audrey Baron, et al.
Human Mutation|June 21, 2016
DCDC2 Mutations Cause Neonatal Sclerosing CholangitisMuriel Girard, Albane A Bizet, Alain Lachaux, et al.
Orphanet Journal of Rare Diseases|December 7, 2023
∆<sup>4</sup>-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acidAntoine Gardin, Mathias Ruiz, Jan Beime, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
American Journal of Medical Genetics. Part A|September 20, 2015
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformationsJean-Benoît Courcet, Anne Minello, Fabienne Prieur, et al.
Nature Communications|April 8, 2024
Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastomaAmélie Roehrig, Theo Z Hirsch, Aurore Pire, et al.
Gastro Hep Advances|November 14, 2025
Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling PathwayLéa-Philippine Gaigne, Caroline Besnard, Orianne Debeaupuis, et al.
The Journal of Experimental Medicine|June 20, 2019
Inherited IL-18BP deficiency in human fulminant viral hepatitisSerkan Belkaya, Eleftherios Michailidis, Cecilia B Korol, et al.
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