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L Faivre

Showing results (51-60 of 131) with videos related to

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American Journal of Medical Genetics. Part A|November 25, 2024
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic CounselingC Racine, P Callier, R Touraine, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 11, 2010
[Genetic testing in asymptomatic minors: a survey among French geneticists]L Joly, C Thauvin-Robinet, F Huet, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasiaP Callier, L Faivre, N Marle, et al.
Lung Cancer (Amsterdam, Netherlands)|January 21, 2014
Does KRAS mutational status predict chemoresistance in advanced non-small cell lung cancer (NSCLC)?M Macerelli, C Caramella, L Faivre, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndromeA L Mosca, P Callier, A Masurel-Paulet, et al.
Journal of Medical Genetics|January 15, 2003
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL Faivre, R J Gorlin, M K Wirtz, et al.
American Journal of Medical Genetics. Part A|October 27, 2018
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutationC Lemattre, J Thevenon, Y Duffourd, et al.
Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical regionA L Mosca, P Callier, L Faivre, et al.
American Journal of Medical Genetics. Part A|July 17, 2008
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndromeP Callier, L Faivre, C Thauvin-Robinet, et al.
Pageof 14

Showing results (51-60 of 131) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|November 25, 2024
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic CounselingC Racine, P Callier, R Touraine, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 11, 2010
[Genetic testing in asymptomatic minors: a survey among French geneticists]L Joly, C Thauvin-Robinet, F Huet, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasiaP Callier, L Faivre, N Marle, et al.
Lung Cancer (Amsterdam, Netherlands)|January 21, 2014
Does KRAS mutational status predict chemoresistance in advanced non-small cell lung cancer (NSCLC)?M Macerelli, C Caramella, L Faivre, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndromeA L Mosca, P Callier, A Masurel-Paulet, et al.
Journal of Medical Genetics|January 15, 2003
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL Faivre, R J Gorlin, M K Wirtz, et al.
American Journal of Medical Genetics. Part A|October 27, 2018
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutationC Lemattre, J Thevenon, Y Duffourd, et al.
Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical regionA L Mosca, P Callier, L Faivre, et al.
American Journal of Medical Genetics. Part A|July 17, 2008
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndromeP Callier, L Faivre, C Thauvin-Robinet, et al.
Pageof 14