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Stanislas Lyonnet

Showing results (141-150 of 260) with videos related to

Pageof 26
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American Journal of Human Genetics|December 13, 2006
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeLekbir Baala, Stephane Romano, Rana Khaddour, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
Human Mutation|June 21, 2016
DCDC2 Mutations Cause Neonatal Sclerosing CholangitisMuriel Girard, Albane A Bizet, Alain Lachaux, et al.
Neuroimage. Clinical|December 1, 2018
Anatomical and functional abnormalities on MRI in kabuki syndromeJennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 12, 2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseLoïc de Pontual, Norann A Zaghloul, Sophie Thomas, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|August 26, 2024
AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostosesQuentin Hennocq, Giovanna Paternoster, Corinne Collet, et al.
Blood|March 25, 2021
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disordersRomain Duval, Gaël Nicolas, Alexandra Willemetz, et al.
Frontiers in Molecular Neuroscience|January 10, 2022
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and HumanJean Marie Delalande, Nandor Nagy, Conor J McCann, et al.
Frontiers in Molecular Neuroscience|May 16, 2022
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and HumanJean Marie Delalande, Nandor Nagy, Conor J McCann, et al.
Developmental Biology|May 28, 2013
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a modelMaria M Alves, Yunia Sribudiani, Rutger W W Brouwer, et al.
Pageof 26

Showing results (141-150 of 260) with videos related to

Sort By:
Pageof 26
American Journal of Human Genetics|December 13, 2006
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeLekbir Baala, Stephane Romano, Rana Khaddour, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
Human Mutation|June 21, 2016
DCDC2 Mutations Cause Neonatal Sclerosing CholangitisMuriel Girard, Albane A Bizet, Alain Lachaux, et al.
Neuroimage. Clinical|December 1, 2018
Anatomical and functional abnormalities on MRI in kabuki syndromeJennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 12, 2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseLoïc de Pontual, Norann A Zaghloul, Sophie Thomas, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|August 26, 2024
AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostosesQuentin Hennocq, Giovanna Paternoster, Corinne Collet, et al.
Blood|March 25, 2021
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disordersRomain Duval, Gaël Nicolas, Alexandra Willemetz, et al.
Frontiers in Molecular Neuroscience|January 10, 2022
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and HumanJean Marie Delalande, Nandor Nagy, Conor J McCann, et al.
Frontiers in Molecular Neuroscience|May 16, 2022
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and HumanJean Marie Delalande, Nandor Nagy, Conor J McCann, et al.
Developmental Biology|May 28, 2013
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a modelMaria M Alves, Yunia Sribudiani, Rutger W W Brouwer, et al.
Pageof 26