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Human Mutation
|
December 2, 2010
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome
Alexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, et al.
American Journal of Human Genetics
|
March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.
Frontiers in Immunology
|
June 6, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Frédéric Vély, Vincent Barlogis, Evelyne Marinier, et al.
Archives of Disease in Childhood
|
October 11, 2013
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome
Alexandre 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 France
Eduardo Couchonnal, Laurence Lion-François, Olivier Guillaud, et al.
Diagnostics (Basel, Switzerland)
|
May 28, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis
Marion 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 Malnutrition
Matthieu 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 gaps
Nazek 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 disease
Clothilde 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 study
Pauline Perreard, Sarah Castets, Karine Aouchiche, et al.
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of 8
Search research articles
Search
Showing results (51-60 of 73) with videos related to
Sort By:
Page
of 8
Human Mutation
|
December 2, 2010
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome
Alexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, et al.
American Journal of Human Genetics
|
March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.
Frontiers in Immunology
|
June 6, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Frédéric Vély, Vincent Barlogis, Evelyne Marinier, et al.
Archives of Disease in Childhood
|
October 11, 2013
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome
Alexandre 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 France
Eduardo Couchonnal, Laurence Lion-François, Olivier Guillaud, et al.
Diagnostics (Basel, Switzerland)
|
May 28, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis
Marion 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 Malnutrition
Matthieu 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 gaps
Nazek 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 disease
Clothilde 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 study
Pauline Perreard, Sarah Castets, Karine Aouchiche, et al.
Page
of 8