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Emmanuelle Genin

Showing results (11-20 of 34) with videos related to

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American Journal of Human Genetics|June 15, 2006
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndromeAnne-Louise Leutenegger, Audrey Labalme, Emmanuelle Genin, et al.
Human Heredity|February 21, 2007
Evidence for a locus in 1p31 region specifically linked to the co-morbidity of asthma and allergic rhinitis in the EGEA studyMarie-Hélène Dizier, Emmanuelle Bouzigon, Michel Guilloud-Bataille, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|March 8, 2014
Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organsNina Norgren, Malin Olsson, Hanna Nyström, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))Nina Marchi, Serge Pissard, Manuel Cliquennois, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in CaucasiansStéphanie Guey, Markus Kraemer, Dominique Hervé, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patientsGaetan Lesca, Emmanuelle Genin, Claire Blachier, et al.
Plos Biology|September 24, 2014
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouseBrooke Tata, Lukas Huijbregts, Sandrine Jacquier, et al.
Clinical Chemistry|December 2, 2006
Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM StudyVincent Gajdos, François M Petit, Claire Perret, et al.
Translational Psychiatry|December 7, 2018
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencingThomas Husson, Jean-Baptiste Duboc, Olivier Quenez, et al.
Clinical Genetics|October 10, 2018
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5Justine Lerat, Crystel Bonnet, François Cartault, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

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Pageof 4
American Journal of Human Genetics|June 15, 2006
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndromeAnne-Louise Leutenegger, Audrey Labalme, Emmanuelle Genin, et al.
Human Heredity|February 21, 2007
Evidence for a locus in 1p31 region specifically linked to the co-morbidity of asthma and allergic rhinitis in the EGEA studyMarie-Hélène Dizier, Emmanuelle Bouzigon, Michel Guilloud-Bataille, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|March 8, 2014
Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organsNina Norgren, Malin Olsson, Hanna Nyström, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))Nina Marchi, Serge Pissard, Manuel Cliquennois, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in CaucasiansStéphanie Guey, Markus Kraemer, Dominique Hervé, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patientsGaetan Lesca, Emmanuelle Genin, Claire Blachier, et al.
Plos Biology|September 24, 2014
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouseBrooke Tata, Lukas Huijbregts, Sandrine Jacquier, et al.
Clinical Chemistry|December 2, 2006
Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM StudyVincent Gajdos, François M Petit, Claire Perret, et al.
Translational Psychiatry|December 7, 2018
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencingThomas Husson, Jean-Baptiste Duboc, Olivier Quenez, et al.
Clinical Genetics|October 10, 2018
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5Justine Lerat, Crystel Bonnet, François Cartault, et al.
Pageof 4