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Hilde Brems

Showing results (41-50 of 72) with videos related to

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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.
International Journal of Molecular Sciences|April 12, 2022
Identification of Codon 146 <i>KRAS</i> Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathiesAude Beyens, Laure Dequeker, Hilde Brems, 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.
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.
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.
Plos One|December 5, 2013
Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disabilityJoke Vandewalle, Marion Langen, Marlen Zschätzsch, et al.
Human Mutation|May 9, 2019
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis siteCarlijn Brekelmans, Silke Hollants, Caroline De Groote, et al.
Gynecologic Oncology|July 13, 2021
Comprehensive immunomolecular profiling of endometrial carcinoma: A tertiary retrospective studyJasper Victoor, Sara Vander Borght, Lien Spans, et al.
Neuro-Oncology|February 7, 2018
The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumorsChristine S Higham, Eva Dombi, Aljosja Rogiers, et al.
Clinical Genetics|October 2, 2019
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait maculesElisabeth Castellanos, Inma Rosas, Alex Negro, et al.
Pageof 8

Showing results (41-50 of 72) with videos related to

Sort By:
Pageof 8
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.
International Journal of Molecular Sciences|April 12, 2022
Identification of Codon 146 <i>KRAS</i> Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathiesAude Beyens, Laure Dequeker, Hilde Brems, 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.
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.
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.
Plos One|December 5, 2013
Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disabilityJoke Vandewalle, Marion Langen, Marlen Zschätzsch, et al.
Human Mutation|May 9, 2019
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis siteCarlijn Brekelmans, Silke Hollants, Caroline De Groote, et al.
Gynecologic Oncology|July 13, 2021
Comprehensive immunomolecular profiling of endometrial carcinoma: A tertiary retrospective studyJasper Victoor, Sara Vander Borght, Lien Spans, et al.
Neuro-Oncology|February 7, 2018
The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumorsChristine S Higham, Eva Dombi, Aljosja Rogiers, et al.
Clinical Genetics|October 2, 2019
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait maculesElisabeth Castellanos, Inma Rosas, Alex Negro, et al.
Pageof 8