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Showing results (201-210 of 260) with videos related to

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Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
Frontiers in Genetics|April 21, 2022
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study ProtocolCatherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, et al.
Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.
American Journal of Human Genetics|May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingThuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, et al.
American Journal of Human Genetics|June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndromeLekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.
Nature|April 5, 2019
Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Nature|June 15, 2018
Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, et al.
Pageof 26

Showing results (201-210 of 260) with videos related to

Sort By:
Pageof 26
Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
Frontiers in Genetics|April 21, 2022
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study ProtocolCatherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, et al.
Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.
American Journal of Human Genetics|May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingThuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, et al.
American Journal of Human Genetics|June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndromeLekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.
Nature|April 5, 2019
Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Nature|June 15, 2018
Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, et al.
Pageof 26