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Stanislas Lyonnet

Showing results (111-120 of 260) with videos related to

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Human Molecular Genetics|March 8, 2013
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndromeJamal Ghoumid, Loïc Drevillon, Seyedeh Maryam Alavi-Naini, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|February 6, 2025
Expanding PIGM-related disorders to coding mutationsRomain Nicolle, Laura Russell, Véronique Abadie, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesitySophie Thomas, Vincent Cantagrel, Laura Mariani, et al.
American Journal of Human Genetics|May 11, 2006
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesCapucine Delnatte, Damien Sanlaville, Jean-Francois Mougenot, et al.
Orphanet Journal of Rare Diseases|December 3, 2013
Pathways systematically associated to Hirschsprung's diseaseRaquel M Fernández, Marta Bleda, Berta Luzón-Toro, et al.
Human Mutation|October 12, 2013
Congenital heart defects in patients with deletions upstream of SOX9Marta Sanchez-Castro, Christopher T Gordon, Florence Petit, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndromeChristopher T Gordon, Christopher M Cunniff, Glenn E Green, et al.
Plos One|May 15, 2013
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung diseaseAnne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, et al.
American Journal of Medical Genetics. Part A|April 20, 2017
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experienceClaudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, et al.
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosisCaroline Michot, Carine Le Goff, Alice Goldenberg, et al.
Pageof 26

Showing results (111-120 of 260) with videos related to

Sort By:
Pageof 26
Human Molecular Genetics|March 8, 2013
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndromeJamal Ghoumid, Loïc Drevillon, Seyedeh Maryam Alavi-Naini, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|February 6, 2025
Expanding PIGM-related disorders to coding mutationsRomain Nicolle, Laura Russell, Véronique Abadie, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesitySophie Thomas, Vincent Cantagrel, Laura Mariani, et al.
American Journal of Human Genetics|May 11, 2006
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesCapucine Delnatte, Damien Sanlaville, Jean-Francois Mougenot, et al.
Orphanet Journal of Rare Diseases|December 3, 2013
Pathways systematically associated to Hirschsprung's diseaseRaquel M Fernández, Marta Bleda, Berta Luzón-Toro, et al.
Human Mutation|October 12, 2013
Congenital heart defects in patients with deletions upstream of SOX9Marta Sanchez-Castro, Christopher T Gordon, Florence Petit, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndromeChristopher T Gordon, Christopher M Cunniff, Glenn E Green, et al.
Plos One|May 15, 2013
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung diseaseAnne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, et al.
American Journal of Medical Genetics. Part A|April 20, 2017
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experienceClaudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, et al.
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosisCaroline Michot, Carine Le Goff, Alice Goldenberg, et al.
Pageof 26