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Fabien Guimiot

Showing results (81-90 of 92) with videos related to

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Science (New York, N.Y.)|October 19, 2019
Spatiotemporal expansion of primary progenitor zones in the developing human cerebellumParthiv Haldipur, Kimberly A Aldinger, Silvia Bernardo, et al.
Journal of Medical Genetics|February 5, 2020
<i>CDK5RAP2</i> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defectsHala Nasser, Liza Vera, Monique Elmaleh-Bergès, 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.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Acta Neuropathologica|August 4, 2021
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformationParthiv Haldipur, Silvia Bernardo, Kimberly A Aldinger, et al.
Clinical Genetics|January 8, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesLaura Mary, Kirsley Chennen, Corinne Stoetzel, 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.
European Journal of Human Genetics : EJHG|October 30, 2014
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, et al.
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Brain : a Journal of Neurology|February 11, 2012
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathiesLouise Devisme, Céline Bouchet, Marie Gonzalès, et al.
Pageof 10

Showing results (81-90 of 92) with videos related to

Sort By:
Pageof 10
Science (New York, N.Y.)|October 19, 2019
Spatiotemporal expansion of primary progenitor zones in the developing human cerebellumParthiv Haldipur, Kimberly A Aldinger, Silvia Bernardo, et al.
Journal of Medical Genetics|February 5, 2020
<i>CDK5RAP2</i> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defectsHala Nasser, Liza Vera, Monique Elmaleh-Bergès, 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.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Acta Neuropathologica|August 4, 2021
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformationParthiv Haldipur, Silvia Bernardo, Kimberly A Aldinger, et al.
Clinical Genetics|January 8, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesLaura Mary, Kirsley Chennen, Corinne Stoetzel, 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.
European Journal of Human Genetics : EJHG|October 30, 2014
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, et al.
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Brain : a Journal of Neurology|February 11, 2012
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathiesLouise Devisme, Céline Bouchet, Marie Gonzalès, et al.
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