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Mathilde Nizon

Showing results (41-50 of 120) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorderHolly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
American Journal of Medical Genetics. Part A|September 23, 2023
Growth charts in DYRK1A syndromePierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, et al.
Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.
Life Science Alliance|January 5, 2024
<i>USP27X</i> variants underlying X-linked intellectual disability disrupt protein function via distinct mechanismsIntisar Koch, Maya Slovik, Yuling Zhang, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
Pageof 12

Showing results (41-50 of 120) with videos related to

Sort By:
Pageof 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorderHolly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
American Journal of Medical Genetics. Part A|September 23, 2023
Growth charts in DYRK1A syndromePierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, et al.
Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.
Life Science Alliance|January 5, 2024
<i>USP27X</i> variants underlying X-linked intellectual disability disrupt protein function via distinct mechanismsIntisar Koch, Maya Slovik, Yuling Zhang, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
Pageof 12