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Miikka Vikkula

Showing results (81-90 of 182) with videos related to

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American Journal of Medical Genetics. Part A|March 13, 2012
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutationMatthew G Butler, Susan L Dagenais, José L Garcia-Perez, et al.
Molecular Syndromology|January 8, 2015
Common somatic alterations identified in maffucci syndrome by molecular karyotypingMustapha Amyere, Anne Dompmartin, Vinciane Wouters, et al.
Structure (London, England : 1993)|June 6, 2020
Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic MutationsPatrick Hansmann, Anne Brückner, Stephan Kiontke, et al.
American Journal of Human Genetics|February 15, 2002
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")Pascal Brouillard, Laurence M Boon, John B Mulliken, et al.
Journal of Vascular Surgery. Venous and Lymphatic Disorders|April 8, 2023
Clinical phenotype of adolescent and adult patients with extracranial vascular malformationAleksandra Tuleja, Sarah Bernhard, Györgyi Hamvas, et al.
Nature Cardiovascular Research|June 12, 2025
Reversal of cerebrovascular anomalies in a zebrafish model of vein of Galen aneurysmEdwige Martin-Valiente, Yao Du, Chloé Goemans, et al.
Journal of Medical Genetics|March 4, 2018
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromesMirta Basha, Bénédicte Demeer, Nicole Revencu, et al.
American Journal of Human Genetics|May 13, 2003
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaAlexandre Irrthum, Koenraad Devriendt, David Chitayat, et al.
Human Molecular Genetics|May 2, 2013
Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFBMelanie Uebelhoer, Marjut Nätynki, Jaakko Kangas, et al.
Archives of Dermatology|November 18, 2009
Elevated D-dimer level in the differential diagnosis of venous malformationsAnne Dompmartin, Fanny Ballieux, Pascal Thibon, et al.
Pageof 19

Showing results (81-90 of 182) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|March 13, 2012
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutationMatthew G Butler, Susan L Dagenais, José L Garcia-Perez, et al.
Molecular Syndromology|January 8, 2015
Common somatic alterations identified in maffucci syndrome by molecular karyotypingMustapha Amyere, Anne Dompmartin, Vinciane Wouters, et al.
Structure (London, England : 1993)|June 6, 2020
Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic MutationsPatrick Hansmann, Anne Brückner, Stephan Kiontke, et al.
American Journal of Human Genetics|February 15, 2002
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")Pascal Brouillard, Laurence M Boon, John B Mulliken, et al.
Journal of Vascular Surgery. Venous and Lymphatic Disorders|April 8, 2023
Clinical phenotype of adolescent and adult patients with extracranial vascular malformationAleksandra Tuleja, Sarah Bernhard, Györgyi Hamvas, et al.
Nature Cardiovascular Research|June 12, 2025
Reversal of cerebrovascular anomalies in a zebrafish model of vein of Galen aneurysmEdwige Martin-Valiente, Yao Du, Chloé Goemans, et al.
Journal of Medical Genetics|March 4, 2018
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromesMirta Basha, Bénédicte Demeer, Nicole Revencu, et al.
American Journal of Human Genetics|May 13, 2003
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaAlexandre Irrthum, Koenraad Devriendt, David Chitayat, et al.
Human Molecular Genetics|May 2, 2013
Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFBMelanie Uebelhoer, Marjut Nätynki, Jaakko Kangas, et al.
Archives of Dermatology|November 18, 2009
Elevated D-dimer level in the differential diagnosis of venous malformationsAnne Dompmartin, Fanny Ballieux, Pascal Thibon, et al.
Pageof 19