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Pascal Brouillard

Showing results (11-20 of 40) with videos related to

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JCI Insight|June 22, 2021
KRAS-driven model of Gorham-Stout disease effectively treated with trametinibNassim Homayun-Sepehr, Anna L McCarter, Raphaël Helaers, et al.
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.
Journal of Medical Genetics|December 8, 2021
Biallelic <i>ANGPT2</i> loss-of-function causes severe early-onset non-immune hydrops fetalisMarie F Smeland, Pascal Brouillard, Trine Prescott, et al.
Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS|July 23, 2013
Reconstructive surgery in the management of a patient with CLOVES syndromeFanny Ballieux, Ali Modarressi, Frank Hammer, 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.
Pediatric Dermatology|September 15, 2018
Angiosarcoma arising from congenital primary lymphedemaPauline Janssens, Valérie Dekeuleneer, An Van Damme, et al.
Diabetes & Metabolism Journal|March 25, 2024
A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene PolymorphismsSophie Welsch, Antoine Harvengt, Paola Gallo, et al.
Cells|March 14, 2026
Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic DiabetesAntoine Harvengt, Gauthier Pirlot, Leyan Denizli, et al.
JAMA Dermatology|April 25, 2019
Association of PDGFRB Mutations With Pediatric Myofibroma and MyofibromatosisGuillaume Dachy, Ronald R de Krijger, Sylvie Fraitag, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
JCI Insight|June 22, 2021
KRAS-driven model of Gorham-Stout disease effectively treated with trametinibNassim Homayun-Sepehr, Anna L McCarter, Raphaël Helaers, et al.
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.
Journal of Medical Genetics|December 8, 2021
Biallelic <i>ANGPT2</i> loss-of-function causes severe early-onset non-immune hydrops fetalisMarie F Smeland, Pascal Brouillard, Trine Prescott, et al.
Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS|July 23, 2013
Reconstructive surgery in the management of a patient with CLOVES syndromeFanny Ballieux, Ali Modarressi, Frank Hammer, 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.
Pediatric Dermatology|September 15, 2018
Angiosarcoma arising from congenital primary lymphedemaPauline Janssens, Valérie Dekeuleneer, An Van Damme, et al.
Diabetes & Metabolism Journal|March 25, 2024
A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene PolymorphismsSophie Welsch, Antoine Harvengt, Paola Gallo, et al.
Cells|March 14, 2026
Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic DiabetesAntoine Harvengt, Gauthier Pirlot, Leyan Denizli, et al.
JAMA Dermatology|April 25, 2019
Association of PDGFRB Mutations With Pediatric Myofibroma and MyofibromatosisGuillaume Dachy, Ronald R de Krijger, Sylvie Fraitag, et al.
Pageof 4