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Mathilde Nizon

Showing results (61-70 of 120) with videos related to

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Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 2018
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <i>RPSA</i> exonsAlexandre Bolze, Bertrand Boisson, Barbara Bosch, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSolveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
European Journal of Human Genetics : EJHG|April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem featuresChristel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxiaHeba Morsy, Mehdi Benkirane, Elisa Cali, et al.
BMJ Open|October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in FranceCamille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
Pageof 12

Showing results (61-70 of 120) with videos related to

Sort By:
Pageof 12
Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 2018
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <i>RPSA</i> exonsAlexandre Bolze, Bertrand Boisson, Barbara Bosch, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSolveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
European Journal of Human Genetics : EJHG|April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem featuresChristel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxiaHeba Morsy, Mehdi Benkirane, Elisa Cali, et al.
BMJ Open|October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in FranceCamille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
Pageof 12