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Anne-Laure Mosca

Showing results (11-20 of 50) with videos related to

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Molecular Cytogenetics|June 26, 2015
6q16.3q23.3 duplication associated with Prader-Willi-like syndromeLaurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
Additional evidence to support the role of the 20q13.33 region in susceptibility to autismAnne-Laure Mosca-Boidron, Mylène Valduga, Christel Thauvin-Robinet, et al.
Journal of Medical Genetics|October 27, 2012
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsyJean-Benoît Courcet, Laurence Faivre, Perrine Malzac, et al.
Molecular Genetics & Genomic Medicine|October 30, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseasesFrederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello, 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|September 27, 2014
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contracturesJulien Thevenon, Nicole Monnier, Patrick Callier, et al.
Journal of Medical Genetics|February 19, 2011
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndromeSalima El Chehadeh-Djebbar, Laurence Faivre, Anne Moncla, et al.
European Journal of Human Genetics : EJHG|October 22, 2015
Heterozygous deletion of the LRFN2 gene is associated with working memory deficitsJulien Thevenon, Céline Souchay, Gail K Seabold, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseasesAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Annals of Human Genetics|February 10, 2022
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGHEmilie Tisserant, Antonio Vitobello, Davide Callegarin, et al.
Pageof 5

Showing results (11-20 of 50) with videos related to

Sort By:
Pageof 5
Molecular Cytogenetics|June 26, 2015
6q16.3q23.3 duplication associated with Prader-Willi-like syndromeLaurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
Additional evidence to support the role of the 20q13.33 region in susceptibility to autismAnne-Laure Mosca-Boidron, Mylène Valduga, Christel Thauvin-Robinet, et al.
Journal of Medical Genetics|October 27, 2012
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsyJean-Benoît Courcet, Laurence Faivre, Perrine Malzac, et al.
Molecular Genetics & Genomic Medicine|October 30, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseasesFrederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello, 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|September 27, 2014
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contracturesJulien Thevenon, Nicole Monnier, Patrick Callier, et al.
Journal of Medical Genetics|February 19, 2011
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndromeSalima El Chehadeh-Djebbar, Laurence Faivre, Anne Moncla, et al.
European Journal of Human Genetics : EJHG|October 22, 2015
Heterozygous deletion of the LRFN2 gene is associated with working memory deficitsJulien Thevenon, Céline Souchay, Gail K Seabold, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseasesAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Annals of Human Genetics|February 10, 2022
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGHEmilie Tisserant, Antonio Vitobello, Davide Callegarin, et al.
Pageof 5