Sofie De Schepper - JoVE Visualize

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Journal of Medical Genetics|May 17, 2026

Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytesJoséphine Blancke, Suzanne Vanhauwaert, Stijn Van de Sompele, et al.

Pigment Cell & Melanoma Research|April 8, 2010

First histopathological and immunophenotypic analysis of early dynamic events in a patient with segmental vitiligo associated with halo neviNanja A C van Geel, Ilse G Mollet, Sofie De Schepper, et al.

JAMA Dermatology|December 29, 2016

Pathologic Evaluation of Skin Tumors With Ex Vivo Dermoscopy With Derm DottingMarc Haspeslagh, Isabelle Hoorens, Nele Degryse, et al.

Genes|July 25, 2019

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the LiteratureAude Beyens, Kyaran Van Meensel, Lore Pottie, et al.

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.

European Journal of Pediatrics|May 24, 2019

Care for children with severe chronic skin diseasesHannelore De Maeseneer, Dirk Van Gysel, Sofie De Schepper, et al.

International Journal of Molecular Sciences|April 12, 2022

Identification of Codon 146 KRAS 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.

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.

Clinical and Experimental Rheumatology|July 10, 2019

Pitfalls in the detection of myositis specific antibodies by lineblot in clinically suspected idiopathic inflammatory myopathyYves Piette, Maxime De Sloovere, Stien Vandendriessche, et al.

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Showing results (21-30 of 37) with videos related to

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Journal of Medical Genetics|May 17, 2026

Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytesJoséphine Blancke, Suzanne Vanhauwaert, Stijn Van de Sompele, et al.

Pigment Cell & Melanoma Research|April 8, 2010

First histopathological and immunophenotypic analysis of early dynamic events in a patient with segmental vitiligo associated with halo neviNanja A C van Geel, Ilse G Mollet, Sofie De Schepper, et al.

JAMA Dermatology|December 29, 2016

Pathologic Evaluation of Skin Tumors With Ex Vivo Dermoscopy With Derm DottingMarc Haspeslagh, Isabelle Hoorens, Nele Degryse, et al.

Genes|July 25, 2019

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the LiteratureAude Beyens, Kyaran Van Meensel, Lore Pottie, et al.

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.

European Journal of Pediatrics|May 24, 2019

Care for children with severe chronic skin diseasesHannelore De Maeseneer, Dirk Van Gysel, Sofie De Schepper, et al.

International Journal of Molecular Sciences|April 12, 2022

Identification of Codon 146 KRAS 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.

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.

Clinical and Experimental Rheumatology|July 10, 2019

Pitfalls in the detection of myositis specific antibodies by lineblot in clinically suspected idiopathic inflammatory myopathyYves Piette, Maxime De Sloovere, Stien Vandendriessche, et al.

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