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Stanislas Lyonnet

Showing results (121-130 of 260) with videos related to

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Human Molecular Genetics|June 12, 2014
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndromeWalid Abi Habib, Salah Azzi, Frédéric Brioude, et al.
Nature Genetics|September 6, 2011
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humansLoïc de Pontual, Evelyn Yao, Patrick Callier, et al.
Molecular Genetics & Genomic Medicine|April 11, 2025
COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literatureSarah Guterman, Agnese Feresin, Lucile Boutaud, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresiaEmmanuelle Ranza, Morgane Le Gouez, Anne Guimier, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiencyCarolina Prando, Stéphanie Boisson-Dupuis, Audrey V Grant, et al.
Human Molecular Genetics|December 28, 2016
Mutations in BOREALIN cause thyroid dysgenesisAurore Carré, Athanasia Stoupa, Dulanjalee Kariyawasam, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresiaMarie Cognet, Agnés Nougayrede, Valérie Malan, et al.
Human Molecular Genetics|October 9, 2003
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)Loïc de Pontual, Virginie Népote, Tania Attié-Bitach, et al.
Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.
European Journal of Human Genetics : EJHG|March 8, 2012
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung diseaseAnne-Sophie Jannot, Jeanne Amiel, Anna Pelet, et al.
Pageof 26

Showing results (121-130 of 260) with videos related to

Sort By:
Pageof 26
Human Molecular Genetics|June 12, 2014
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndromeWalid Abi Habib, Salah Azzi, Frédéric Brioude, et al.
Nature Genetics|September 6, 2011
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humansLoïc de Pontual, Evelyn Yao, Patrick Callier, et al.
Molecular Genetics & Genomic Medicine|April 11, 2025
COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literatureSarah Guterman, Agnese Feresin, Lucile Boutaud, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresiaEmmanuelle Ranza, Morgane Le Gouez, Anne Guimier, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiencyCarolina Prando, Stéphanie Boisson-Dupuis, Audrey V Grant, et al.
Human Molecular Genetics|December 28, 2016
Mutations in BOREALIN cause thyroid dysgenesisAurore Carré, Athanasia Stoupa, Dulanjalee Kariyawasam, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresiaMarie Cognet, Agnés Nougayrede, Valérie Malan, et al.
Human Molecular Genetics|October 9, 2003
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)Loïc de Pontual, Virginie Népote, Tania Attié-Bitach, et al.
Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.
European Journal of Human Genetics : EJHG|March 8, 2012
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung diseaseAnne-Sophie Jannot, Jeanne Amiel, Anna Pelet, et al.
Pageof 26