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Alexandre Fabre

Showing results (51-60 of 73) with videos related to

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Human Mutation|December 2, 2010
Novel mutations in TTC37 associated with tricho-hepato-enteric syndromeAlexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, et al.
American Journal of Human Genetics|March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndromeAlexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.
Frontiers in Immunology|June 6, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric SyndromeFrédéric Vély, Vincent Barlogis, Evelyne Marinier, et al.
Archives of Disease in Childhood|October 11, 2013
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndromeAlexandre Fabre, Anne Breton, Marie-Edith Coste, et al.
Journal of Pediatric Gastroenterology and Nutrition|June 6, 2021
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in FranceEduardo Couchonnal, Laurence Lion-François, Olivier Guillaud, et al.
Diagnostics (Basel, Switzerland)|May 28, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric CholestasisMarion Almes, Anne Spraul, Mathias Ruiz, et al.
Scientific Reports|May 18, 2016
Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute MalnutritionMatthieu Million, Maryam Tidjani Alou, Saber Khelaifia, et al.
Nutrition Research Reviews|September 29, 2025
Lipid intake in infants from birth to 3 years old: review of current guidelines and knowledge gapsNazek Najdi, Camille Jung, Eurídice Castañeda-Gutiérrez, et al.
European Journal of Medical Genetics|August 5, 2021
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem diseaseClothilde Estève, Céline Roman, Cécile DeLeusse, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|September 13, 2024
Quality of life of chronically ill children and adolescents: a cross-sectional studyPauline Perreard, Sarah Castets, Karine Aouchiche, et al.
Pageof 8

Showing results (51-60 of 73) with videos related to

Sort By:
Pageof 8
Human Mutation|December 2, 2010
Novel mutations in TTC37 associated with tricho-hepato-enteric syndromeAlexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, et al.
American Journal of Human Genetics|March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndromeAlexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.
Frontiers in Immunology|June 6, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric SyndromeFrédéric Vély, Vincent Barlogis, Evelyne Marinier, et al.
Archives of Disease in Childhood|October 11, 2013
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndromeAlexandre Fabre, Anne Breton, Marie-Edith Coste, et al.
Journal of Pediatric Gastroenterology and Nutrition|June 6, 2021
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in FranceEduardo Couchonnal, Laurence Lion-François, Olivier Guillaud, et al.
Diagnostics (Basel, Switzerland)|May 28, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric CholestasisMarion Almes, Anne Spraul, Mathias Ruiz, et al.
Scientific Reports|May 18, 2016
Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute MalnutritionMatthieu Million, Maryam Tidjani Alou, Saber Khelaifia, et al.
Nutrition Research Reviews|September 29, 2025
Lipid intake in infants from birth to 3 years old: review of current guidelines and knowledge gapsNazek Najdi, Camille Jung, Eurídice Castañeda-Gutiérrez, et al.
European Journal of Medical Genetics|August 5, 2021
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem diseaseClothilde Estève, Céline Roman, Cécile DeLeusse, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|September 13, 2024
Quality of life of chronically ill children and adolescents: a cross-sectional studyPauline Perreard, Sarah Castets, Karine Aouchiche, et al.
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