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Hilde Brems

Showing results (51-60 of 72) with videos related to

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Acta Neuropathologica|October 31, 2019
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiationYanan Yu, Kwangmin Choi, Jianqiang Wu, et al.
Nature|August 15, 2014
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapiesThomas De Raedt, Eline Beert, Eric Pasmant, et al.
NPJ Precision Oncology|May 24, 2024
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variantsRichard Gallon, Carlijn Brekelmans, Marie Martin, 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.
Genome Biology|June 25, 2014
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpointsJulia Vogt, Kathrin Bengesser, Kathleen B M Claes, et al.
Genes, Chromosomes & Cancer|October 12, 2011
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumorsEline Beert, Hilde Brems, Bruno Daniëls, et al.
Cancer Research|September 10, 2009
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel associationHilde Brems, Caroline Park, Ophélia Maertens, et al.
Skin Health and Disease|October 2, 2024
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait maculesCharlotte Lovatt, Megan Williams, Alex Gibbs, 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.
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.
Pageof 8

Showing results (51-60 of 72) with videos related to

Sort By:
Pageof 8
Acta Neuropathologica|October 31, 2019
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiationYanan Yu, Kwangmin Choi, Jianqiang Wu, et al.
Nature|August 15, 2014
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapiesThomas De Raedt, Eline Beert, Eric Pasmant, et al.
NPJ Precision Oncology|May 24, 2024
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variantsRichard Gallon, Carlijn Brekelmans, Marie Martin, 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.
Genome Biology|June 25, 2014
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpointsJulia Vogt, Kathrin Bengesser, Kathleen B M Claes, et al.
Genes, Chromosomes & Cancer|October 12, 2011
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumorsEline Beert, Hilde Brems, Bruno Daniëls, et al.
Cancer Research|September 10, 2009
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel associationHilde Brems, Caroline Park, Ophélia Maertens, et al.
Skin Health and Disease|October 2, 2024
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait maculesCharlotte Lovatt, Megan Williams, Alex Gibbs, 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.
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.
Pageof 8