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Bioinformatics (Oxford, England)
|
December 4, 2018
GEMPROT: visualization of the impact on the protein of the genetic variants found on each haplotype
Tania Cuppens, Thomas E Ludwig, Pascal Trouvé, et al.
International Journal of Molecular Sciences
|
June 24, 2022
New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches
Samarth Thonta Setty, Marie-Pier Scott-Boyer, Tania Cuppens, et al.
Frontiers in Psychiatry
|
November 4, 2021
Phenotypic Trade-Offs: Deciphering the Impact of Neurodiversity on Drug Development in Fragile X Syndrome
Truong An Bui, Julie Shatto, Tania Cuppens, et al.
Bioinformatics (Oxford, England)
|
May 5, 2018
MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data
Waqasuddin Khan, Ganapathi Varma Saripella, Thomas Ludwig, et al.
Biology of Sex Differences
|
April 23, 2025
Sexual dimorphism in metabolomic and phenotypic spectra of UGT deficiency: findings from the Canadian Longitudinal Study on Aging
Ana Lucia Rivera-Herrera, Michèle Rouleau, Mahukpe Narcisse Ulrich Singbo, et al.
American Journal of Hematology
|
October 31, 2017
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele
Kevin Uguen, Virginie Scotet, Chandran Ka, et al.
Life Science Alliance
|
February 17, 2021
Modulating HSF1 levels impacts expression of the estrogen receptor α and antiestrogen response
Maruhen Ad Silveira, Christophe Tav, Félix-Antoine Bérube-Simard, et al.
Geroscience
|
June 24, 2026
Exploring the association between common genetic deletions and aging: insights from the Canadian Longitudinal Study on Aging
Ana Lucia Rivera-Herrera, Michèle Rouleau, Mahukpe Narcisse Ulrich Singbo, et al.
Frontiers in Pediatrics
|
October 4, 2023
Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences
Tania Cuppens, Manpreet Kaur, Ajay A Kumar, et al.
Frontiers in Pediatrics
|
August 23, 2023
Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders
Tania Cuppens, Julie Shatto, Loïc Mangnier, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Bioinformatics (Oxford, England)
|
December 4, 2018
GEMPROT: visualization of the impact on the protein of the genetic variants found on each haplotype
Tania Cuppens, Thomas E Ludwig, Pascal Trouvé, et al.
International Journal of Molecular Sciences
|
June 24, 2022
New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches
Samarth Thonta Setty, Marie-Pier Scott-Boyer, Tania Cuppens, et al.
Frontiers in Psychiatry
|
November 4, 2021
Phenotypic Trade-Offs: Deciphering the Impact of Neurodiversity on Drug Development in Fragile X Syndrome
Truong An Bui, Julie Shatto, Tania Cuppens, et al.
Bioinformatics (Oxford, England)
|
May 5, 2018
MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data
Waqasuddin Khan, Ganapathi Varma Saripella, Thomas Ludwig, et al.
Biology of Sex Differences
|
April 23, 2025
Sexual dimorphism in metabolomic and phenotypic spectra of UGT deficiency: findings from the Canadian Longitudinal Study on Aging
Ana Lucia Rivera-Herrera, Michèle Rouleau, Mahukpe Narcisse Ulrich Singbo, et al.
American Journal of Hematology
|
October 31, 2017
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele
Kevin Uguen, Virginie Scotet, Chandran Ka, et al.
Life Science Alliance
|
February 17, 2021
Modulating HSF1 levels impacts expression of the estrogen receptor α and antiestrogen response
Maruhen Ad Silveira, Christophe Tav, Félix-Antoine Bérube-Simard, et al.
Geroscience
|
June 24, 2026
Exploring the association between common genetic deletions and aging: insights from the Canadian Longitudinal Study on Aging
Ana Lucia Rivera-Herrera, Michèle Rouleau, Mahukpe Narcisse Ulrich Singbo, et al.
Frontiers in Pediatrics
|
October 4, 2023
Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences
Tania Cuppens, Manpreet Kaur, Ajay A Kumar, et al.
Frontiers in Pediatrics
|
August 23, 2023
Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders
Tania Cuppens, Julie Shatto, Loïc Mangnier, et al.
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of 1