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Catherine Fallet

Showing results (51-60 of 64) with videos related to

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Journal of Clinical Immunology|February 3, 2021
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and MalformationsMathieu Fusaro, Aline Vincent, Martin Castelle, et al.
Acta Neuropathologica Communications|July 26, 2014
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyCatherine Fallet-Bianco, Annie Laquerrière, Karine Poirier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.
American Journal of Human Genetics|December 11, 2012
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalySandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, et al.
Nature Genetics|May 26, 2009
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyriaXavier Hubert Jaglin, Karine Poirier, Yoann Saillour, et al.
Neurology. Genetics|June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophyStefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.
Neurology. Genetics|October 30, 2023
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical OutcomesEric Krochmalnek, Andrea Accogli, Judith St-Onge, et al.
Acta Neuropathologica|July 4, 2013
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular basesHoma Adle-Biassette, Pascale Saugier-Veber, Catherine Fallet-Bianco, et al.
Journal of Medical Genetics|October 2, 2012
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutationsMarine Legendre, Marie Gonzales, Géraldine Goudefroye, et al.
Pageof 7

Showing results (51-60 of 64) with videos related to

Sort By:
Pageof 7
Journal of Clinical Immunology|February 3, 2021
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and MalformationsMathieu Fusaro, Aline Vincent, Martin Castelle, et al.
Acta Neuropathologica Communications|July 26, 2014
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyCatherine Fallet-Bianco, Annie Laquerrière, Karine Poirier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.
American Journal of Human Genetics|December 11, 2012
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalySandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, et al.
Nature Genetics|May 26, 2009
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyriaXavier Hubert Jaglin, Karine Poirier, Yoann Saillour, et al.
Neurology. Genetics|June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophyStefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.
Neurology. Genetics|October 30, 2023
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical OutcomesEric Krochmalnek, Andrea Accogli, Judith St-Onge, et al.
Acta Neuropathologica|July 4, 2013
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular basesHoma Adle-Biassette, Pascale Saugier-Veber, Catherine Fallet-Bianco, et al.
Journal of Medical Genetics|October 2, 2012
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutationsMarine Legendre, Marie Gonzales, Géraldine Goudefroye, et al.
Pageof 7