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International Journal of Molecular Sciences
|
April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories
Kevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
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 Diagnosis
Kevin Yauy, David Baux, Henri Pegeot, et al.
European Journal of Human Genetics : EJHG
|
July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
Christel Vaché, Valérie Faugère, David Baux, et al.
Neuromuscular Disorders : NMD
|
October 31, 2020
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies
Aurélien Perrin, Raul Juntas Morales, François Rivier, et al.
International Journal of Molecular Sciences
|
December 17, 2024
Congenital Titinopathies Linked to Mutations in <i>TTN</i> Metatranscript-Only Exons
Aurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic, et al.
The Journal of Molecular Diagnostics : JMD
|
May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
Aurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Human Genomics
|
February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Journal of Medical Genetics
|
November 7, 2023
Titin copy number variations associated with dominant inherited phenotypes
Aurélien Perrin, Corinne Métay, Marco Savarese, et al.
Brain : a Journal of Neurology
|
June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies
Mridul Johari, Chiara Folland, Yoshihiko Saito, et al.
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Search research articles
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Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
International Journal of Molecular Sciences
|
April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories
Kevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
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 Diagnosis
Kevin Yauy, David Baux, Henri Pegeot, et al.
European Journal of Human Genetics : EJHG
|
July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
Christel Vaché, Valérie Faugère, David Baux, et al.
Neuromuscular Disorders : NMD
|
October 31, 2020
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies
Aurélien Perrin, Raul Juntas Morales, François Rivier, et al.
International Journal of Molecular Sciences
|
December 17, 2024
Congenital Titinopathies Linked to Mutations in <i>TTN</i> Metatranscript-Only Exons
Aurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic, et al.
The Journal of Molecular Diagnostics : JMD
|
May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
Aurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Human Genomics
|
February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Journal of Medical Genetics
|
November 7, 2023
Titin copy number variations associated with dominant inherited phenotypes
Aurélien Perrin, Corinne Métay, Marco Savarese, et al.
Brain : a Journal of Neurology
|
June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies
Mridul Johari, Chiara Folland, Yoshihiko Saito, et al.
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of 3