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Clinics and Research in Hepatology and Gastroenterology
|
March 4, 2021
A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings
Rémi Duclaux-Loras, Patrice Bourgeois, Pierre-Marie Lavrut, et al.
Frontiers in Immunology
|
June 6, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Frédéric Vély, Vincent Barlogis, Evelyne Marinier, et al.
Atherosclerosis
|
December 27, 2019
High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome
Nathalie Bonello-Palot, Marc Laine, Thomas Cuisset, 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.
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.
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Search research articles
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Showing results (21-30 of 25) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 25 results.
Clinics and Research in Hepatology and Gastroenterology
|
March 4, 2021
A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings
Rémi Duclaux-Loras, Patrice Bourgeois, Pierre-Marie Lavrut, et al.
Frontiers in Immunology
|
June 6, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Frédéric Vély, Vincent Barlogis, Evelyne Marinier, et al.
Atherosclerosis
|
December 27, 2019
High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome
Nathalie Bonello-Palot, Marc Laine, Thomas Cuisset, 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.
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.
Page
of 3