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Stanislas Lyonnet

Showing results (161-170 of 260) with videos related to

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American Journal of Human Genetics|May 8, 2012
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndromeMark J Rieder, Glenn E Green, Sarah S Park, et al.
American Journal of Human Genetics|December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural DiseaseRomain Luscan, Sabrina Mechaussier, Antoine Paul, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
Human Genetics|October 22, 2013
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic formJulie Salomon, Olivier Goulet, Danielle Canioni, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
American Journal of Human Genetics|October 3, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesAntoine Paul, Anthony Drecourt, Floriane Petit, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
European Journal of Human Genetics : EJHG|November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestaltFlavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectVanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, et al.
Pageof 26

Showing results (161-170 of 260) with videos related to

Sort By:
Pageof 26
American Journal of Human Genetics|May 8, 2012
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndromeMark J Rieder, Glenn E Green, Sarah S Park, et al.
American Journal of Human Genetics|December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural DiseaseRomain Luscan, Sabrina Mechaussier, Antoine Paul, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
Human Genetics|October 22, 2013
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic formJulie Salomon, Olivier Goulet, Danielle Canioni, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
American Journal of Human Genetics|October 3, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesAntoine Paul, Anthony Drecourt, Floriane Petit, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
European Journal of Human Genetics : EJHG|November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestaltFlavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectVanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, et al.
Pageof 26