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Thomas Guignard

Showing results (11-20 of 18) with videos related to

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The Journal of Molecular Diagnostics : JMD|April 25, 2018
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular DiagnosisKevin Yauy, David Baux, Henri Pegeot, et al.
Human Molecular Genetics|October 4, 2017
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotypeGaël Manes, Willy Joly, Thomas Guignard, et al.
The Journal of Molecular Diagnostics : JMD|May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated DomainsAurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutationKevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, et al.
European Journal of Human Genetics : EJHG|June 21, 2022
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspectiveConstance F Wells, Guilaine Boursier, Kevin Yauy, et al.
European Journal of Human Genetics : EJHG|July 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders groupCamille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2019
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
The Journal of Molecular Diagnostics : JMD|April 25, 2018
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular DiagnosisKevin Yauy, David Baux, Henri Pegeot, et al.
Human Molecular Genetics|October 4, 2017
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotypeGaël Manes, Willy Joly, Thomas Guignard, et al.
The Journal of Molecular Diagnostics : JMD|May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated DomainsAurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutationKevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, et al.
European Journal of Human Genetics : EJHG|June 21, 2022
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspectiveConstance F Wells, Guilaine Boursier, Kevin Yauy, et al.
European Journal of Human Genetics : EJHG|July 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders groupCamille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2019
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, et al.
Pageof 2