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Jean-Baptiste Lamouche

Showing results (1-10 of 8) with videos related to

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NAR Genomics and Bioinformatics|November 21, 2025
Genome region aware CADD thresholds for noncoding variant prioritizationJude-Félix Tenywa, Jean-Baptiste Lamouche, Sarah Baer, et al.
Nucleic Acids Research|May 22, 2023
The AnnotSV webserver in 2023: updated visualization and rankingVéronique Geoffroy, Jean-Baptiste Lamouche, Thomas Guignard, et al.
Clinical Genetics|June 21, 2025
PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia DefectAdella Karam, Clarisse Delvallée, Bénédicte Gérard, et al.
Journal of Medical Genetics|March 12, 2026
Diagnosis complexity of dentinogenesis imperfecta involving <i>DSPP</i> genetic variantsGaétan Caravello, Alexandra Jiménez-Armijo, Marzena Kawczynski, et al.
Brain : a Journal of Neurology|February 10, 2026
No role of intronic expansions in HSF1 for essential tremor in EuropeJean-Loup Méreaux, Thomas Wirth, Claire-Sophie Davoine, et al.
International Journal of Molecular Sciences|May 27, 2023
WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function DefectsAdella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.
Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
NAR Genomics and Bioinformatics|November 21, 2025
Genome region aware CADD thresholds for noncoding variant prioritizationJude-Félix Tenywa, Jean-Baptiste Lamouche, Sarah Baer, et al.
Nucleic Acids Research|May 22, 2023
The AnnotSV webserver in 2023: updated visualization and rankingVéronique Geoffroy, Jean-Baptiste Lamouche, Thomas Guignard, et al.
Clinical Genetics|June 21, 2025
PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia DefectAdella Karam, Clarisse Delvallée, Bénédicte Gérard, et al.
Journal of Medical Genetics|March 12, 2026
Diagnosis complexity of dentinogenesis imperfecta involving <i>DSPP</i> genetic variantsGaétan Caravello, Alexandra Jiménez-Armijo, Marzena Kawczynski, et al.
Brain : a Journal of Neurology|February 10, 2026
No role of intronic expansions in HSF1 for essential tremor in EuropeJean-Loup Méreaux, Thomas Wirth, Claire-Sophie Davoine, et al.
International Journal of Molecular Sciences|May 27, 2023
WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function DefectsAdella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.
Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.
Pageof 1