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Stanislas Lyonnet

Showing results (101-110 of 260) with videos related to

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Journal of Medical Genetics|March 27, 2017
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathyStéphanie Guey, Lou Grangeon, Francis Brunelle, et al.
American Journal of Human Genetics|May 16, 2007
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, et al.
Nature Genetics|March 14, 2007
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesisLekbir Baala, Sylvain Briault, Heather C Etchevers, et al.
European Journal of Medical Genetics|February 15, 2011
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic GulfJulie Salomon, Yolanda Espinosa-Parrilla, Olivier Goulet, et al.
BMJ Case Reports|July 2, 2011
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
American Journal of Medical Genetics. Part A|November 6, 2025
Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for DysmorphologyLudovic Benichou, Luan Breton, Nicolas Garcelon, et al.
Clinical Genetics|December 26, 2024
Next Generation Phenotyping and Synthetic Faces in Coffin Siris SyndromeQuentin Hennocq, Olivier Lienhard, Dipesh Rao, et al.
Journal of Medical Genetics|June 26, 2007
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Nature|October 17, 2008
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastomaIsabelle Janoueix-Lerosey, Delphine Lequin, Laurence Brugières, et al.
Human Molecular Genetics|October 11, 2019
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcomeAnna Pelet, Vaclava Skopova, Ulrike Steuerwald, et al.
Pageof 26

Showing results (101-110 of 260) with videos related to

Sort By:
Pageof 26
Journal of Medical Genetics|March 27, 2017
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathyStéphanie Guey, Lou Grangeon, Francis Brunelle, et al.
American Journal of Human Genetics|May 16, 2007
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, et al.
Nature Genetics|March 14, 2007
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesisLekbir Baala, Sylvain Briault, Heather C Etchevers, et al.
European Journal of Medical Genetics|February 15, 2011
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic GulfJulie Salomon, Yolanda Espinosa-Parrilla, Olivier Goulet, et al.
BMJ Case Reports|July 2, 2011
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
American Journal of Medical Genetics. Part A|November 6, 2025
Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for DysmorphologyLudovic Benichou, Luan Breton, Nicolas Garcelon, et al.
Clinical Genetics|December 26, 2024
Next Generation Phenotyping and Synthetic Faces in Coffin Siris SyndromeQuentin Hennocq, Olivier Lienhard, Dipesh Rao, et al.
Journal of Medical Genetics|June 26, 2007
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Nature|October 17, 2008
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastomaIsabelle Janoueix-Lerosey, Delphine Lequin, Laurence Brugières, et al.
Human Molecular Genetics|October 11, 2019
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcomeAnna Pelet, Vaclava Skopova, Ulrike Steuerwald, et al.
Pageof 26