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Stanislas Lyonnet

Showing results (151-160 of 260) with videos related to

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Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.
Journal of Medical Genetics|November 5, 2011
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex developmentSabina Benko, Christopher T Gordon, Delphine Mallet, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
Human Molecular Genetics|April 9, 2022
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humansAnne Guimier, Loïc de Pontual, Stephen R Braddock, et al.
Frontiers in Pediatrics|September 4, 2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapesQuentin Hennocq, Thomas Bongibault, Sandrine Marlin, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 14, 2012
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathyFrançois Cartault, Patrick Munier, Edgar Benko, et al.
American Journal of Human Genetics|November 26, 2013
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsChristopher T Gordon, Florence Petit, Peter M Kroisel, et al.
Scientific Reports|January 28, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndromeQuentin Hennocq, Marjolaine Willems, Jeanne Amiel, et al.
Journal of Medical Genetics|October 18, 2013
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorderJulien Thevenon, Patrick Callier, Hélène Poquet, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomaliesCaroline Alby, Lucile Boutaud, Bettina Bessières, et al.
Pageof 26

Showing results (151-160 of 260) with videos related to

Sort By:
Pageof 26
Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.
Journal of Medical Genetics|November 5, 2011
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex developmentSabina Benko, Christopher T Gordon, Delphine Mallet, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
Human Molecular Genetics|April 9, 2022
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humansAnne Guimier, Loïc de Pontual, Stephen R Braddock, et al.
Frontiers in Pediatrics|September 4, 2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapesQuentin Hennocq, Thomas Bongibault, Sandrine Marlin, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 14, 2012
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathyFrançois Cartault, Patrick Munier, Edgar Benko, et al.
American Journal of Human Genetics|November 26, 2013
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsChristopher T Gordon, Florence Petit, Peter M Kroisel, et al.
Scientific Reports|January 28, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndromeQuentin Hennocq, Marjolaine Willems, Jeanne Amiel, et al.
Journal of Medical Genetics|October 18, 2013
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorderJulien Thevenon, Patrick Callier, Hélène Poquet, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomaliesCaroline Alby, Lucile Boutaud, Bettina Bessières, et al.
Pageof 26