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Annales De Biologie Clinique
|
February 10, 2021
[A simple approach to create a common language, a necessary element for the development of a quality culture in a medical biology laboratory]
Henri Daniel Lathro, Benedicte Sudrié-Arnaud, Sarah Snanoudj-Verber, et al.
Genes
|
November 27, 2021
An Atypical Case of Congenital Erythropoietic Porphyria
Bénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
November 13, 2020
Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation
Xin Chen, Sarah Snanoudj-Verber, Laura Pollard, et al.
International Journal of Molecular Sciences
|
January 8, 2023
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency
Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, et al.
Pediatric Research
|
March 12, 2024
New insights and potential biomarkers for intraventricular hemorrhage in extremely premature infant, case-control study
Franklin Ducatez, Abdellah Tebani, Lenaig Abily-Donval, et al.
International Journal of Molecular Sciences
|
December 10, 2021
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family
Sarah Snanoudj, Stéphanie Torre, Bénédicte Sudrié-Arnaud, et al.
Clinical Genetics
|
July 7, 2022
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series
Thouraya Ben Younes, Ichraf Kraoua, Sarah Snanoudj, et al.
Molecular Genetics & Genomic Medicine
|
June 29, 2019
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
Sarah Snanoudj, Patrick Mordel, Quentin Dupas, et al.
Heliyon
|
August 5, 2024
Genome-wide expression analysis in a Fabry disease human podocyte cell line
Sarah Snanoudj, Céline Derambure, Cheng Zhang, et al.
Diagnostics (Basel, Switzerland)
|
March 6, 2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
Bénédicte Sudrié-Arnaud, Sarah Snanoudj, Ivana Dabaj, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Annales De Biologie Clinique
|
February 10, 2021
[A simple approach to create a common language, a necessary element for the development of a quality culture in a medical biology laboratory]
Henri Daniel Lathro, Benedicte Sudrié-Arnaud, Sarah Snanoudj-Verber, et al.
Genes
|
November 27, 2021
An Atypical Case of Congenital Erythropoietic Porphyria
Bénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
November 13, 2020
Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation
Xin Chen, Sarah Snanoudj-Verber, Laura Pollard, et al.
International Journal of Molecular Sciences
|
January 8, 2023
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency
Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, et al.
Pediatric Research
|
March 12, 2024
New insights and potential biomarkers for intraventricular hemorrhage in extremely premature infant, case-control study
Franklin Ducatez, Abdellah Tebani, Lenaig Abily-Donval, et al.
International Journal of Molecular Sciences
|
December 10, 2021
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family
Sarah Snanoudj, Stéphanie Torre, Bénédicte Sudrié-Arnaud, et al.
Clinical Genetics
|
July 7, 2022
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series
Thouraya Ben Younes, Ichraf Kraoua, Sarah Snanoudj, et al.
Molecular Genetics & Genomic Medicine
|
June 29, 2019
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
Sarah Snanoudj, Patrick Mordel, Quentin Dupas, et al.
Heliyon
|
August 5, 2024
Genome-wide expression analysis in a Fabry disease human podocyte cell line
Sarah Snanoudj, Céline Derambure, Cheng Zhang, et al.
Diagnostics (Basel, Switzerland)
|
March 6, 2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
Bénédicte Sudrié-Arnaud, Sarah Snanoudj, Ivana Dabaj, et al.
Page
of 2