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Valérie Layet

Showing results (1-10 of 38) with videos related to

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American Journal of Medical Genetics. Part A|April 24, 2012
Sirenomelia and caudal malformations in two familiesMarion Gerard, Valérie Layet, Teresa Costa, et al.
American Journal of Medical Genetics. Part A|September 14, 2006
Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg)Andréas Andreou, Aude Lamy, Valérie Layet, et al.
American Journal of Medical Genetics. Part A|September 21, 2022
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case reportMinh-Tuan Huynh, Sophie Degre, Géraldine Joly-Helas, et al.
Surgical Neurology|May 4, 2004
Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literatureStéphane Derrey, Francois Proust, Bertrand Debono, et al.
European Journal of Medical Genetics|May 7, 2013
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammationMarie Crahes, Pascale Saugier-Veber, Sophie Patrier, et al.
Annales De Biologie Clinique|June 23, 2021
[A, not so robertsonian, translocation!]Julie Amiot, Valérie Layet, Alain Talbot, et al.
European Journal of Medical Genetics|July 9, 2018
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous familyGianluca Caridi, Francesca Lugani, Brigitte Rigat, et al.
Brain : a Journal of Neurology|November 30, 2010
Heterozygous OPA1 mutations in Behr syndromeCecilia Marelli, Patrizia Amati-Bonneau, Pascal Reynier, et al.
Human Mutation|September 27, 2016
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner DiseaseCyril Burin-des-Roziers, Pierre-Raphael Rothschild, Valérie Layet, et al.
Acta Neuropathologica Communications|May 3, 2017
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ genePascale Saugier-Veber, Florent Marguet, François Lecoquierre, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|April 24, 2012
Sirenomelia and caudal malformations in two familiesMarion Gerard, Valérie Layet, Teresa Costa, et al.
American Journal of Medical Genetics. Part A|September 14, 2006
Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg)Andréas Andreou, Aude Lamy, Valérie Layet, et al.
American Journal of Medical Genetics. Part A|September 21, 2022
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case reportMinh-Tuan Huynh, Sophie Degre, Géraldine Joly-Helas, et al.
Surgical Neurology|May 4, 2004
Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literatureStéphane Derrey, Francois Proust, Bertrand Debono, et al.
European Journal of Medical Genetics|May 7, 2013
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammationMarie Crahes, Pascale Saugier-Veber, Sophie Patrier, et al.
Annales De Biologie Clinique|June 23, 2021
[A, not so robertsonian, translocation!]Julie Amiot, Valérie Layet, Alain Talbot, et al.
European Journal of Medical Genetics|July 9, 2018
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous familyGianluca Caridi, Francesca Lugani, Brigitte Rigat, et al.
Brain : a Journal of Neurology|November 30, 2010
Heterozygous OPA1 mutations in Behr syndromeCecilia Marelli, Patrizia Amati-Bonneau, Pascal Reynier, et al.
Human Mutation|September 27, 2016
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner DiseaseCyril Burin-des-Roziers, Pierre-Raphael Rothschild, Valérie Layet, et al.
Acta Neuropathologica Communications|May 3, 2017
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ genePascale Saugier-Veber, Florent Marguet, François Lecoquierre, et al.
Pageof 4