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Journal of Inherited Metabolic Disease
|
March 18, 2025
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors
Foudil Lamari, Francis Rossignol, Grant A Mitchell
Journal of Inherited Metabolic Disease
|
March 2, 2025
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders
Francis Rossignol, Foudil Lamari, Grant A Mitchell
Journal of Inherited Metabolic Disease
|
February 17, 2021
Inherited disorders of complex lipid metabolism: A clinical review
Changrui Xiao, Francis Rossignol, Frédéric M Vaz, et al.
BMC Family Practice
|
July 9, 2011
The Patient Enablement Instrument-French version in a family practice setting: a reliability study
Catherine Hudon, Martin Fortin, Francis Rossignol, et al.
Molecular Genetics and Metabolism
|
December 21, 2024
Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms
Carol L Greene, Sofia Saenz-Ayala, Erin T Strovel, et al.
Proceedings of Machine Learning Research
|
October 1, 2025
CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports
Xiao Yu Cindy Zhang, Carlos R Ferreira, Francis Rossignol, et al.
Molecular Genetics and Metabolism Reports
|
January 13, 2018
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient <i>FAH</i> alleles
Hao Yang, Francis Rossignol, Denis Cyr, et al.
Journal of Medical Genetics
|
November 24, 2016
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
Hao Yang, Walla Al-Hertani, Denis Cyr, et al.
Kidney International Reports
|
February 3, 2026
Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies
Marjan Huizing, Anirban Ganguli, Jonathan Bolaños, et al.
Journal of Inherited Metabolic Disease
|
May 15, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status
Kendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Journal of Inherited Metabolic Disease
|
March 18, 2025
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors
Foudil Lamari, Francis Rossignol, Grant A Mitchell
Journal of Inherited Metabolic Disease
|
March 2, 2025
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders
Francis Rossignol, Foudil Lamari, Grant A Mitchell
Journal of Inherited Metabolic Disease
|
February 17, 2021
Inherited disorders of complex lipid metabolism: A clinical review
Changrui Xiao, Francis Rossignol, Frédéric M Vaz, et al.
BMC Family Practice
|
July 9, 2011
The Patient Enablement Instrument-French version in a family practice setting: a reliability study
Catherine Hudon, Martin Fortin, Francis Rossignol, et al.
Molecular Genetics and Metabolism
|
December 21, 2024
Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms
Carol L Greene, Sofia Saenz-Ayala, Erin T Strovel, et al.
Proceedings of Machine Learning Research
|
October 1, 2025
CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports
Xiao Yu Cindy Zhang, Carlos R Ferreira, Francis Rossignol, et al.
Molecular Genetics and Metabolism Reports
|
January 13, 2018
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient <i>FAH</i> alleles
Hao Yang, Francis Rossignol, Denis Cyr, et al.
Journal of Medical Genetics
|
November 24, 2016
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
Hao Yang, Walla Al-Hertani, Denis Cyr, et al.
Kidney International Reports
|
February 3, 2026
Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies
Marjan Huizing, Anirban Ganguli, Jonathan Bolaños, et al.
Journal of Inherited Metabolic Disease
|
May 15, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status
Kendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
Page
of 2