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Patricia McClean

Showing results (31-40 of 38) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Hepatology Communications|May 16, 2018
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficienciesLaura N Bull, Ludmila Pawlikowska, Sandra Strautnieks, et al.
Nature Genetics|March 12, 2014
Mutations in TJP2 cause progressive cholestatic liver diseaseMelissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, et al.
Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, et al.
Gastroenterology|April 9, 2008
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 familiesSandra S Strautnieks, Jane A Byrne, Ludmila Pawlikowska, et al.
Journal of Hepatology|May 8, 2010
Differences in presentation and progression between severe FIC1 and BSEP deficienciesLudmila Pawlikowska, Sandra Strautnieks, Irena Jankowska, et al.
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Hepatology Communications|May 16, 2018
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficienciesLaura N Bull, Ludmila Pawlikowska, Sandra Strautnieks, et al.
Nature Genetics|March 12, 2014
Mutations in TJP2 cause progressive cholestatic liver diseaseMelissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, et al.
Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, et al.
Gastroenterology|April 9, 2008
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 familiesSandra S Strautnieks, Jane A Byrne, Ludmila Pawlikowska, et al.
Journal of Hepatology|May 8, 2010
Differences in presentation and progression between severe FIC1 and BSEP deficienciesLudmila Pawlikowska, Sandra Strautnieks, Irena Jankowska, et al.
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
Pageof 4