24 results on '"Thompson, Richard J."'
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2. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
3. Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiency
4. Genotype correlates with the natural history of severe bile salt export pump deficiency
5. Genetic cholestasis in children and adults
6. THU-158 Improvements in serum bile acid levels are associated with improvements in key markers of liver health after maralixibat treatment in children with progressive familial intrahepatic cholestasis: data from the MARCH/MARCH-ON trials
7. THU-129 Maralixibat improves growth in patients with progressive familial intrahepatic cholestasis: data from the MARCH/MARCH-ON trials
8. SAT-167-YI Generation and utilisation of an advanced iPSC-derived hepatocyte model for cholestasis modelling
9. Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.
10. Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism.
11. ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants.
12. Reply to: “Doublecortin domain containing protein 2 (DCDC2) genetic variants in primary sclerosing cholangitis”
13. Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.
14. Prediction of death and neurologic outcome in the emergency department in out-of-hospital cardiac...
15. Lack of hepatocellular CD10 along bile canaliculi is physiologic in early childhood and persistent in Alagille syndrome.
16. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: Incomplete ARC syndrome phenotype.
17. Sequencing of transporter genes in cholestasis: We are still learning.
18. James P. Lodge, Jr.: a tribute to a friend
19. 846 Mutations in Tight Junction Protein 2 Underlie a Spectrum of Cholestatic Liver Disease.
20. Methyl-2-pyridyl ketoxime as a colorimetric reagent for rhenium
21. Numerical simulations of high frequency transverse pulsed jet injection into a supersonic crossflow.
22. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
23. Genetics of liver disease: From pathophysiology to clinical practice.
24. Challenges in understanding the consequences of variants in ABCB4 gene.
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