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Sabine A Fuchs

Showing results (51-60 of 64) with videos related to

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Hepatology (Baltimore, Md.)|November 13, 2019
Large-Scale Production of LGR5-Positive Bipotential Human Liver Stem CellsKerstin Schneeberger, Natalia Sánchez-Romero, Shicheng Ye, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiographyAnnemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2021
Treatment of ARS deficiencies with specific amino acidsGautam Kok, Laura Tseng, Imre F Schene, et al.
Cell|December 24, 2014
Long-term culture of genome-stable bipotent stem cells from adult human liverMeritxell Huch, Helmuth Gehart, Ruben van Boxtel, et al.
Frontiers in Genetics|October 30, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseTom E J Theunissen, Minh Nguyen, Rick Kamps, et al.
Cells|February 15, 2020
Long-Term Survival of Transplanted Autologous Canine Liver Organoids in a <i>COMMD1</i>-Deficient Dog Model of Metabolic Liver DiseaseHedwig S Kruitwagen, Loes A Oosterhoff, Monique E van Wolferen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2024
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutationsSateesh Maddirevula, Mohammad Shagrani, Ae-Ri Ji, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, et al.
International Journal of Neonatal Screening|October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn ScreeningAbigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Pageof 7

Showing results (51-60 of 64) with videos related to

Sort By:
Pageof 7
Hepatology (Baltimore, Md.)|November 13, 2019
Large-Scale Production of LGR5-Positive Bipotential Human Liver Stem CellsKerstin Schneeberger, Natalia Sánchez-Romero, Shicheng Ye, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiographyAnnemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2021
Treatment of ARS deficiencies with specific amino acidsGautam Kok, Laura Tseng, Imre F Schene, et al.
Cell|December 24, 2014
Long-term culture of genome-stable bipotent stem cells from adult human liverMeritxell Huch, Helmuth Gehart, Ruben van Boxtel, et al.
Frontiers in Genetics|October 30, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseTom E J Theunissen, Minh Nguyen, Rick Kamps, et al.
Cells|February 15, 2020
Long-Term Survival of Transplanted Autologous Canine Liver Organoids in a <i>COMMD1</i>-Deficient Dog Model of Metabolic Liver DiseaseHedwig S Kruitwagen, Loes A Oosterhoff, Monique E van Wolferen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2024
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutationsSateesh Maddirevula, Mohammad Shagrani, Ae-Ri Ji, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, et al.
International Journal of Neonatal Screening|October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn ScreeningAbigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Pageof 7