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Eric Legius

Showing results (131-140 of 165) with videos related to

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Molecular Medicine (Cambridge, Mass.)|July 10, 2026
From clinical suspicion to molecular detection of low-level mosaicism in NF2-related schwannomatosis via ultra-sensitive duplex sequencingMonika Horbacz, Justyna Prokopiuk, Elisabeth Castellanos, et al.
Neuro-Oncology|February 6, 2019
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromasAlexander Pemov, Nancy F Hansen, Sivasish Sindiri, et al.
American Journal of Medical Genetics. Part A|April 25, 2017
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosisJaishri O Blakeley, Annette Bakker, Anne Barker, et al.
European Journal of Cancer (Oxford, England : 1990)|July 17, 2013
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patientsSaskia M J Hopman, Johannes H M Merks, Corianne A J M de Borgie, et al.
Eclinicalmedicine|May 26, 2021
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnanciesLiesbeth Lenaerts, Nathalie Brison, Charlotte Maggen, et al.
Journal of Oncology|July 14, 2020
Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in <i>BRCA1/2</i>: A Review of Secondary Prevention GuidelinesBoudewijn Dullens, Robin de Putter, Matteo Lambertini, et al.
American Journal of Medical Genetics. Part A|November 14, 2014
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenuesKatherine A Rauen, Susan M Huson, Emma Burkitt-Wright, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastomaLivia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
Nature Genetics|January 28, 2003
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6Qing Zhang, Baohui Zhao, Wei Li, et al.
Neuro-Oncology Practice|July 15, 2024
Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseasesBritt A E Dhaenens, Günter Heimann, Annette Bakker, et al.
Pageof 17

Showing results (131-140 of 165) with videos related to

Sort By:
Pageof 17
Molecular Medicine (Cambridge, Mass.)|July 10, 2026
From clinical suspicion to molecular detection of low-level mosaicism in NF2-related schwannomatosis via ultra-sensitive duplex sequencingMonika Horbacz, Justyna Prokopiuk, Elisabeth Castellanos, et al.
Neuro-Oncology|February 6, 2019
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromasAlexander Pemov, Nancy F Hansen, Sivasish Sindiri, et al.
American Journal of Medical Genetics. Part A|April 25, 2017
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosisJaishri O Blakeley, Annette Bakker, Anne Barker, et al.
European Journal of Cancer (Oxford, England : 1990)|July 17, 2013
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patientsSaskia M J Hopman, Johannes H M Merks, Corianne A J M de Borgie, et al.
Eclinicalmedicine|May 26, 2021
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnanciesLiesbeth Lenaerts, Nathalie Brison, Charlotte Maggen, et al.
Journal of Oncology|July 14, 2020
Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in <i>BRCA1/2</i>: A Review of Secondary Prevention GuidelinesBoudewijn Dullens, Robin de Putter, Matteo Lambertini, et al.
American Journal of Medical Genetics. Part A|November 14, 2014
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenuesKatherine A Rauen, Susan M Huson, Emma Burkitt-Wright, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastomaLivia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
Nature Genetics|January 28, 2003
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6Qing Zhang, Baohui Zhao, Wei Li, et al.
Neuro-Oncology Practice|July 15, 2024
Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseasesBritt A E Dhaenens, Günter Heimann, Annette Bakker, et al.
Pageof 17