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Anne-Laure Mosca

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The American Journal of Emergency Medicine|December 18, 2007
An unusual case of acute dyspneaLaurent Boidron, Anne-Laure Mosca
Methods in Molecular Biology (Clifton, N.J.)|August 30, 2025
Artificial Intelligence and ChromothripsisDavide Callegarin, Nada Maaziz, Anne-Laure Mosca, et al.
European Journal of Medical Genetics|October 28, 2006
Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?Anne-Laure Mosca, Nicole Laurent, Laurent Guibaud, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 geneMagali Avila, Maria Kirchhoff, Nathalie Marle, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGHAlice Masurel-Paulet, Patrick Callier, Christel Thauvin-Robinet, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 geneChristel Thauvin-Robinet, Patrick Callier, Brunella Franco, et al.
European Journal of Medical Genetics|March 15, 2011
17q21.31 microdeletion in a patient with pituitary stalk interruption syndromeSalima El Chehadeh-Djebbar, Patrick Callier, Alice Masurel-Paulet, et al.
NAR Genomics and Bioinformatics|April 27, 2026
CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensusVignesh Guru Victor Pillay, Anne-Laure Mosca, Davide Callegarin, et al.
Plos One|April 9, 2013
An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestationAnne-Laure Mosca-Boidron, Laurence Faivre, Serge Aho, et al.
American Journal of Medical Genetics. Part A|September 24, 2018
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesisMathilde Lefebvre, Anne-Marie Beaufrere, Christine Francannet, et al.
Pageof 5

Showing results (1-10 of 50) with videos related to

Sort By:
Pageof 5
The American Journal of Emergency Medicine|December 18, 2007
An unusual case of acute dyspneaLaurent Boidron, Anne-Laure Mosca
Methods in Molecular Biology (Clifton, N.J.)|August 30, 2025
Artificial Intelligence and ChromothripsisDavide Callegarin, Nada Maaziz, Anne-Laure Mosca, et al.
European Journal of Medical Genetics|October 28, 2006
Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?Anne-Laure Mosca, Nicole Laurent, Laurent Guibaud, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 geneMagali Avila, Maria Kirchhoff, Nathalie Marle, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGHAlice Masurel-Paulet, Patrick Callier, Christel Thauvin-Robinet, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 geneChristel Thauvin-Robinet, Patrick Callier, Brunella Franco, et al.
European Journal of Medical Genetics|March 15, 2011
17q21.31 microdeletion in a patient with pituitary stalk interruption syndromeSalima El Chehadeh-Djebbar, Patrick Callier, Alice Masurel-Paulet, et al.
NAR Genomics and Bioinformatics|April 27, 2026
CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensusVignesh Guru Victor Pillay, Anne-Laure Mosca, Davide Callegarin, et al.
Plos One|April 9, 2013
An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestationAnne-Laure Mosca-Boidron, Laurence Faivre, Serge Aho, et al.
American Journal of Medical Genetics. Part A|September 24, 2018
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesisMathilde Lefebvre, Anne-Marie Beaufrere, Christine Francannet, et al.
Pageof 5