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Maaike Vreeburg

Showing results (1-10 of 27) with videos related to

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Experimental Dermatology|January 6, 2015
Novel KRT83 and KRT86 mutations associated with monilethrixMaurice van Steensel, Maaike Vreeburg, Maria T Urbina, et al.
American Journal of Medical Genetics. Part A|October 30, 2016
Review of familial cerebral cavernous malformations and report of seven additional familiesIvo J H M de Vos, Maaike Vreeburg, Ger H Koek, et al.
Dermatology (Basel, Switzerland)|September 4, 2023
Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the LiteratureJulia Clabbers, Noor van van Oosten, Marieke Bolling, et al.
International Journal of Dermatology|November 15, 2008
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 geneMaaike Vreeburg, Martijn V Heitink, Robert J Damstra, et al.
Nature Reviews. Urology|September 16, 2010
Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndromeTijs Claessens, Sherry A Weppler, Michel van Geel, et al.
Neurology. Genetics|April 28, 2020
Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutationAnnemarie C S Knijnenburg, Joost Nicolai, Levinus A Bok, et al.
Human Mutation|December 31, 2016
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey DiseaseRuud G L Nellen, Peter M Steijlen, Maurice A M van Steensel, et al.
International Journal of Dermatology|November 15, 2008
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of viewJaap J A J van der Velden, Maaike Vreeburg, Eric E J Smeets, et al.
Human Molecular Genetics|December 10, 2015
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderElliot Sollis, Sarah A Graham, Arianna Vino, et al.
Parkinsonism & Related Disorders|December 8, 2018
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literatureAndreas Traschütz, Judith van Gaalen, Mayke Oosterloo, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Experimental Dermatology|January 6, 2015
Novel KRT83 and KRT86 mutations associated with monilethrixMaurice van Steensel, Maaike Vreeburg, Maria T Urbina, et al.
American Journal of Medical Genetics. Part A|October 30, 2016
Review of familial cerebral cavernous malformations and report of seven additional familiesIvo J H M de Vos, Maaike Vreeburg, Ger H Koek, et al.
Dermatology (Basel, Switzerland)|September 4, 2023
Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the LiteratureJulia Clabbers, Noor van van Oosten, Marieke Bolling, et al.
International Journal of Dermatology|November 15, 2008
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 geneMaaike Vreeburg, Martijn V Heitink, Robert J Damstra, et al.
Nature Reviews. Urology|September 16, 2010
Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndromeTijs Claessens, Sherry A Weppler, Michel van Geel, et al.
Neurology. Genetics|April 28, 2020
Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutationAnnemarie C S Knijnenburg, Joost Nicolai, Levinus A Bok, et al.
Human Mutation|December 31, 2016
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey DiseaseRuud G L Nellen, Peter M Steijlen, Maurice A M van Steensel, et al.
International Journal of Dermatology|November 15, 2008
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of viewJaap J A J van der Velden, Maaike Vreeburg, Eric E J Smeets, et al.
Human Molecular Genetics|December 10, 2015
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderElliot Sollis, Sarah A Graham, Arianna Vino, et al.
Parkinsonism & Related Disorders|December 8, 2018
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literatureAndreas Traschütz, Judith van Gaalen, Mayke Oosterloo, et al.
Pageof 3