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Emmanuel Gonzales

Showing results (81-90 of 96) with videos related to

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Clinical Chemistry|December 6, 2021
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical LaboratoryKenneth Chappell, Bruno Francou, Christophe Habib, et al.
Transplantation|May 5, 2023
Long-term Outcome of Asymptomatic Patients With Graft Fibrosis in Protocol Biopsies After Pediatric Liver TransplantationSteffen Hartleif, James Hodson, Carla Lloyd, et al.
JHEP Reports : Innovation in Hepatology|January 18, 2024
Expert management of congenital portosystemic shunts and their complicationsValérie Anne McLin, Stéphanie Franchi-Abella, Timothée Brütsch, et al.
JHEP Reports : Innovation in Hepatology|March 14, 2024
Corrigendum to "Expert management of congenital portosystemic shunts and their complications" [JHEP Reports 6 (2024)]Valérie Anne McLin, Stéphanie Franchi-Abella, Timothée Brütsch, et al.
Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
American Journal of Human Genetics|February 13, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone FragilityClothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Journal of Hepatology|February 23, 2020
Genotype correlates with the natural history of severe bile salt export pump deficiencyDaan B E van Wessel, Richard J Thompson, Emmanuel Gonzales, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Pageof 10

Showing results (81-90 of 96) with videos related to

Sort By:
Pageof 10
Clinical Chemistry|December 6, 2021
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical LaboratoryKenneth Chappell, Bruno Francou, Christophe Habib, et al.
Transplantation|May 5, 2023
Long-term Outcome of Asymptomatic Patients With Graft Fibrosis in Protocol Biopsies After Pediatric Liver TransplantationSteffen Hartleif, James Hodson, Carla Lloyd, et al.
JHEP Reports : Innovation in Hepatology|January 18, 2024
Expert management of congenital portosystemic shunts and their complicationsValérie Anne McLin, Stéphanie Franchi-Abella, Timothée Brütsch, et al.
JHEP Reports : Innovation in Hepatology|March 14, 2024
Corrigendum to "Expert management of congenital portosystemic shunts and their complications" [JHEP Reports 6 (2024)]Valérie Anne McLin, Stéphanie Franchi-Abella, Timothée Brütsch, et al.
Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
American Journal of Human Genetics|February 13, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone FragilityClothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Journal of Hepatology|February 23, 2020
Genotype correlates with the natural history of severe bile salt export pump deficiencyDaan B E van Wessel, Richard J Thompson, Emmanuel Gonzales, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Pageof 10