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European Journal of Medical Genetics
|
August 17, 2021
ATP7B variant spectrum in a French pediatric Wilson disease cohort
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, et al.
Clinical Immunology (Orlando, Fla.)
|
November 27, 2019
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity
Sabine Jägle, Maximilian Heeg, Sarah Grün, et al.
The Journal of Pediatrics
|
October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Orphanet Journal of Rare Diseases
|
November 22, 2025
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact
Celine Leon, Marie-Françoise Odou, Bertrand Roquelaure, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
June 12, 2021
A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young Adults
Chrystele Madre, Mario Mašić, Daniela Prlenda-Touilleux, et al.
The Journal of Pediatrics
|
March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet
Aline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.
The Journal of Pediatrics
|
November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Epilepsia
|
June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, 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 Fragility
Clothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.
Journal of Crohn'S & Colitis
|
May 23, 2018
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study
Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, et al.
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Search research articles
Search
Showing results (61-70 of 73) with videos related to
Sort By:
Page
of 8
European Journal of Medical Genetics
|
August 17, 2021
ATP7B variant spectrum in a French pediatric Wilson disease cohort
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, et al.
Clinical Immunology (Orlando, Fla.)
|
November 27, 2019
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity
Sabine Jägle, Maximilian Heeg, Sarah Grün, et al.
The Journal of Pediatrics
|
October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Orphanet Journal of Rare Diseases
|
November 22, 2025
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact
Celine Leon, Marie-Françoise Odou, Bertrand Roquelaure, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
June 12, 2021
A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young Adults
Chrystele Madre, Mario Mašić, Daniela Prlenda-Touilleux, et al.
The Journal of Pediatrics
|
March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet
Aline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.
The Journal of Pediatrics
|
November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Epilepsia
|
June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, 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 Fragility
Clothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.
Journal of Crohn'S & Colitis
|
May 23, 2018
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study
Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, et al.
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