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Ellen Denayer

Showing results (11-20 of 26) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 16, 2011
Observations on intelligence and behavior in 15 patients with Legius syndromeEllen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, et al.
Human Mutation|November 6, 2007
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutationEllen Denayer, Annabel Parret, Magdalena Chmara, et al.
Human Reproduction (Oxford, England)|March 22, 2020
Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testingJia Ding, Eftychia Dimitriadou, Olga Tšuiko, et al.
Nature Genetics|August 21, 2007
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotypeHilde Brems, Magdalena Chmara, Mourad Sahbatou, et al.
Human Reproduction (Oxford, England)|November 2, 2018
Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-MAspasia Destouni, Eftychia Dimitriadou, Heleen Masset, et al.
Genes, Chromosomes & Cancer|December 3, 2009
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutationsEllen Denayer, Koen Devriendt, Thomy de Ravel, et al.
European Journal of Medical Genetics|February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant associationBerardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
Human Reproduction (Oxford, England)|January 10, 2023
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testingOlga Tsuiko, Yasmine El Ayeb, Tatjana Jatsenko, et al.
NPJ Genomic Medicine|October 8, 2021
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formationOlga Tšuiko, Michiel Vanneste, Cindy Melotte, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndromeD Babovic-Vuksanovic, Ludwine Messiaen, Christoph Nagel, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 16, 2011
Observations on intelligence and behavior in 15 patients with Legius syndromeEllen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, et al.
Human Mutation|November 6, 2007
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutationEllen Denayer, Annabel Parret, Magdalena Chmara, et al.
Human Reproduction (Oxford, England)|March 22, 2020
Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testingJia Ding, Eftychia Dimitriadou, Olga Tšuiko, et al.
Nature Genetics|August 21, 2007
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotypeHilde Brems, Magdalena Chmara, Mourad Sahbatou, et al.
Human Reproduction (Oxford, England)|November 2, 2018
Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-MAspasia Destouni, Eftychia Dimitriadou, Heleen Masset, et al.
Genes, Chromosomes & Cancer|December 3, 2009
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutationsEllen Denayer, Koen Devriendt, Thomy de Ravel, et al.
European Journal of Medical Genetics|February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant associationBerardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
Human Reproduction (Oxford, England)|January 10, 2023
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testingOlga Tsuiko, Yasmine El Ayeb, Tatjana Jatsenko, et al.
NPJ Genomic Medicine|October 8, 2021
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formationOlga Tšuiko, Michiel Vanneste, Cindy Melotte, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndromeD Babovic-Vuksanovic, Ludwine Messiaen, Christoph Nagel, et al.
Pageof 3