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Eric Legius

Showing results (81-90 of 165) with videos related to

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Genes, Chromosomes & Cancer|July 11, 2006
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patientsThomas De Raedt, Ophélia Maertens, Magdalena Chmara, et al.
Human Mutation|August 31, 2006
Comprehensive NF1 screening on cultured Schwann cells from neurofibromasOphélia Maertens, Hilde Brems, Jo Vandesompele, et al.
Biological Psychiatry|September 13, 2023
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin PolymerizationVittoria Mariano, Alexandros K Kanellopoulos, Carlotta Ricci, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2020
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNAHuiwen Che, Darine Villela, Eftychia Dimitriadou, et al.
Plos One|June 9, 2012
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionBenedetta Izzi, Inge Francois, Veerle Labarque, et al.
Human Mutation|December 18, 2004
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, et al.
Nature Genetics|November 23, 2006
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionThomas De Raedt, Matthew Stephens, Ine Heyns, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2020
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1Myrthe J Ottenhoff, André B Rietman, Sabine E Mous, et al.
Genes, Chromosomes & Cancer|December 1, 2020
Comprehensive targeted next-generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumorIsabelle Vanden Bempt, Sara Vander Borght, Raf Sciot, et al.
Pageof 17

Showing results (81-90 of 165) with videos related to

Sort By:
Pageof 17
Genes, Chromosomes & Cancer|July 11, 2006
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patientsThomas De Raedt, Ophélia Maertens, Magdalena Chmara, et al.
Human Mutation|August 31, 2006
Comprehensive NF1 screening on cultured Schwann cells from neurofibromasOphélia Maertens, Hilde Brems, Jo Vandesompele, et al.
Biological Psychiatry|September 13, 2023
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin PolymerizationVittoria Mariano, Alexandros K Kanellopoulos, Carlotta Ricci, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2020
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNAHuiwen Che, Darine Villela, Eftychia Dimitriadou, et al.
Plos One|June 9, 2012
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionBenedetta Izzi, Inge Francois, Veerle Labarque, et al.
Human Mutation|December 18, 2004
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, et al.
Nature Genetics|November 23, 2006
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionThomas De Raedt, Matthew Stephens, Ine Heyns, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2020
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1Myrthe J Ottenhoff, André B Rietman, Sabine E Mous, et al.
Genes, Chromosomes & Cancer|December 1, 2020
Comprehensive targeted next-generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumorIsabelle Vanden Bempt, Sara Vander Borght, Raf Sciot, et al.
Pageof 17