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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.
European Journal of Human Genetics : EJHG
|
July 16, 2024
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report
Quentin Sabbagh, Marion Larrieux, Anouck Schneider, et al.
Cells
|
August 26, 2023
Quantification of Female Chimeric Cells in the Tonsils of Male Children and Their Determinants
Boris Dmitrenko, Vincent Gatinois, Morgana D'Ottavi, et al.
Prenatal Diagnosis
|
October 13, 2017
An incidental finding of maternal multiple myeloma by non invasive prenatal testing
Marion Imbert-Bouteille, Jean Chiesa, Jean-Baptiste Gaillard, et al.
American Journal of Medical Genetics. Part A
|
September 4, 2015
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder
Anouck Schneider, Jacques Puechberty, Bee Ling Ng, 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.
European Journal of Human Genetics : EJHG
|
December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
Jérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
Cells
|
September 14, 2019
A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia
Nejla Erkilic, Vincent Gatinois, Simona Torriano, et al.
Stem Cell Research
|
May 11, 2026
Comparative induced pluripotent stem cell models of young, aged, and progeroid, as a resource to study human aging trajectories
Mikael Magnano, Amani Wehbi, Fatimat Almentina Ramos Shidi, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 50) with videos related to
Sort By:
Page
of 5
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.
European Journal of Human Genetics : EJHG
|
July 16, 2024
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report
Quentin Sabbagh, Marion Larrieux, Anouck Schneider, et al.
Cells
|
August 26, 2023
Quantification of Female Chimeric Cells in the Tonsils of Male Children and Their Determinants
Boris Dmitrenko, Vincent Gatinois, Morgana D'Ottavi, et al.
Prenatal Diagnosis
|
October 13, 2017
An incidental finding of maternal multiple myeloma by non invasive prenatal testing
Marion Imbert-Bouteille, Jean Chiesa, Jean-Baptiste Gaillard, et al.
American Journal of Medical Genetics. Part A
|
September 4, 2015
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder
Anouck Schneider, Jacques Puechberty, Bee Ling Ng, 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.
European Journal of Human Genetics : EJHG
|
December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
Jérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
Cells
|
September 14, 2019
A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia
Nejla Erkilic, Vincent Gatinois, Simona Torriano, et al.
Stem Cell Research
|
May 11, 2026
Comparative induced pluripotent stem cell models of young, aged, and progeroid, as a resource to study human aging trajectories
Mikael Magnano, Amani Wehbi, Fatimat Almentina Ramos Shidi, et al.
Page
of 5