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Showing results (741-750 of 885) with videos related to

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European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|June 4, 2016
Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic ToneGilles Kauffenstein, Sophie Tamareille, Fabrice Prunier, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomaliesAndrée Delahaye, Pierre Bitoun, Séverine Drunat, et al.
Archives of Neurology|December 17, 2009
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutationsJudith Calvo, Benoît Funalot, Robert A Ouvrier, et al.
European Journal of Medical Genetics|September 18, 2020
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomaliesLouis M Viollet, Kathryn J Swoboda, Rong Mao, et al.
Nature Communications|March 10, 2019
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncationsGrégoire Cullot, Julian Boutin, Jérôme Toutain, et al.
Nature Communications|May 23, 2013
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channelsJuliette Albuisson, Swetha E Murthy, Michael Bandell, et al.
Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speechJulien Thevenon, Patrick Callier, Joris Andrieux, et al.
Pageof 89

Showing results (741-750 of 885) with videos related to

Sort By:
Pageof 89
European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|June 4, 2016
Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic ToneGilles Kauffenstein, Sophie Tamareille, Fabrice Prunier, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomaliesAndrée Delahaye, Pierre Bitoun, Séverine Drunat, et al.
Archives of Neurology|December 17, 2009
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutationsJudith Calvo, Benoît Funalot, Robert A Ouvrier, et al.
European Journal of Medical Genetics|September 18, 2020
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomaliesLouis M Viollet, Kathryn J Swoboda, Rong Mao, et al.
Nature Communications|March 10, 2019
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncationsGrégoire Cullot, Julian Boutin, Jérôme Toutain, et al.
Nature Communications|May 23, 2013
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channelsJuliette Albuisson, Swetha E Murthy, Michael Bandell, et al.
Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speechJulien Thevenon, Patrick Callier, Joris Andrieux, et al.
Pageof 89