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Laure Raymond

Showing results (31-40 of 46) with videos related to

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European Journal of Medical Genetics|September 20, 2015
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataractsLaure Raymond, Bruno Francou, François Petit, et al.
Therapie|January 9, 2025
How to facilitate the wider use of pharmacogenetic tests?Céline Verstuyft, Dominique Dewolf, Olivier Blin, et al.
Therapie|December 22, 2024
Céline Verstuyft, Dominique Dewolf, Olivier Blin, et al.
Genes|June 26, 2025
<i>MPDZ</i> Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle AtresiaSara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 25, 2023
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorderFrancesca Mattioli, Lina Worpenberg, Cai-Tao Li, et al.
Brain : a Journal of Neurology|January 4, 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegiaJean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, et al.
Kidney International Reports|March 20, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort StudyAlice Doreille, Yannis Lombardi, Marine Dancer, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 10, 2022
An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney diseaseEric Olinger, Céline Schaeffer, Kendrah Kidd, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2022
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routineKevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
European Journal of Medical Genetics|September 20, 2015
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataractsLaure Raymond, Bruno Francou, François Petit, et al.
Therapie|January 9, 2025
How to facilitate the wider use of pharmacogenetic tests?Céline Verstuyft, Dominique Dewolf, Olivier Blin, et al.
Therapie|December 22, 2024
Céline Verstuyft, Dominique Dewolf, Olivier Blin, et al.
Genes|June 26, 2025
<i>MPDZ</i> Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle AtresiaSara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 25, 2023
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorderFrancesca Mattioli, Lina Worpenberg, Cai-Tao Li, et al.
Brain : a Journal of Neurology|January 4, 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegiaJean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, et al.
Kidney International Reports|March 20, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort StudyAlice Doreille, Yannis Lombardi, Marine Dancer, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 10, 2022
An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney diseaseEric Olinger, Céline Schaeffer, Kendrah Kidd, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2022
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routineKevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, et al.
Pageof 5