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European Journal of Human Genetics : EJHG
|
November 8, 2020
MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
March 23, 2018
Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis
Kevin Yauy, Vincent Gatinois, Thomas Guignard, et al.
Nature Neuroscience
|
December 7, 2010
ftz-f1 and Hr39 opposing roles on EcR expression during Drosophila mushroom body neuron remodeling
Ana Boulanger, Christelle Clouet-Redt, Morgane Farge, et al.
Nucleic Acids Research
|
May 22, 2023
The AnnotSV webserver in 2023: updated visualization and ranking
Véronique Geoffroy, Jean-Baptiste Lamouche, Thomas Guignard, et al.
Frontiers in Oncology
|
March 15, 2024
Characterizing <i>PALB2</i> intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing
Iulian O Ban, Alice Chabert, Thomas Guignard, et al.
Nucleic Acids Research
|
May 23, 2021
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
Véronique Geoffroy, Thomas Guignard, Arnaud Kress, et al.
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.
Clinical Epigenetics
|
April 29, 2025
Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature
Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, et al.
BMC Medical Genomics
|
August 4, 2019
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
Kevin Yauy, Anouck Schneider, Bee Ling Ng, et al.
European Journal of Medical Genetics
|
July 15, 2018
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
Marion Imbert-Bouteille, Frédéric Tran Mau Them, Julien Thevenon, et al.
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Search research articles
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Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
European Journal of Human Genetics : EJHG
|
November 8, 2020
MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
March 23, 2018
Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis
Kevin Yauy, Vincent Gatinois, Thomas Guignard, et al.
Nature Neuroscience
|
December 7, 2010
ftz-f1 and Hr39 opposing roles on EcR expression during Drosophila mushroom body neuron remodeling
Ana Boulanger, Christelle Clouet-Redt, Morgane Farge, et al.
Nucleic Acids Research
|
May 22, 2023
The AnnotSV webserver in 2023: updated visualization and ranking
Véronique Geoffroy, Jean-Baptiste Lamouche, Thomas Guignard, et al.
Frontiers in Oncology
|
March 15, 2024
Characterizing <i>PALB2</i> intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing
Iulian O Ban, Alice Chabert, Thomas Guignard, et al.
Nucleic Acids Research
|
May 23, 2021
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
Véronique Geoffroy, Thomas Guignard, Arnaud Kress, et al.
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.
Clinical Epigenetics
|
April 29, 2025
Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature
Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, et al.
BMC Medical Genomics
|
August 4, 2019
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
Kevin Yauy, Anouck Schneider, Bee Ling Ng, et al.
European Journal of Medical Genetics
|
July 15, 2018
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
Marion Imbert-Bouteille, Frédéric Tran Mau Them, Julien Thevenon, et al.
Page
of 2