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Smail Hadj-Rabia

Showing results (111-120 of 125) with videos related to

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Journal of the American Academy of Dermatology|October 6, 2018
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutationsEvelyn Lilly, Christopher G Bunick, Alexander M Maley, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
The Journal of Allergy and Clinical Immunology|April 30, 2018
Epithelial barrier dysfunction in desmoglein-1 deficiencyLaura Polivka, Smail Hadj-Rabia, Elodie Bal, et al.
The Journal of Investigative Dermatology|October 30, 2009
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutationsChristine Bodemer, Olivier Hermine, Fabienne Palmérini, et al.
The Journal of Investigative Dermatology|January 19, 2016
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal MelanocytosisAnna C Thomas, Zhiqiang Zeng, Jean-Baptiste Rivière, et al.
Science Translational Medicine|August 27, 2025
Immune response and clinical severity are shaped by skin-adapted <i>Staphylococcus aureus</i> in chronically infected patientsAnne Jamet, Xiali Fu, Céline Dietrich, et al.
The New England Journal of Medicine|August 19, 2011
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasisSlaheddine Marrakchi, Philippe Guigue, Blair R Renshaw, et al.
The Journal of Allergy and Clinical Immunology|April 14, 2020
A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndromeBahia Bekhouche, Aurore Tourville, Yamini Ravichandran, et al.
Nature|June 15, 2018
Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Nature|April 5, 2019
Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Pageof 13

Showing results (111-120 of 125) with videos related to

Sort By:
Pageof 13
Journal of the American Academy of Dermatology|October 6, 2018
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutationsEvelyn Lilly, Christopher G Bunick, Alexander M Maley, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
The Journal of Allergy and Clinical Immunology|April 30, 2018
Epithelial barrier dysfunction in desmoglein-1 deficiencyLaura Polivka, Smail Hadj-Rabia, Elodie Bal, et al.
The Journal of Investigative Dermatology|October 30, 2009
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutationsChristine Bodemer, Olivier Hermine, Fabienne Palmérini, et al.
The Journal of Investigative Dermatology|January 19, 2016
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal MelanocytosisAnna C Thomas, Zhiqiang Zeng, Jean-Baptiste Rivière, et al.
Science Translational Medicine|August 27, 2025
Immune response and clinical severity are shaped by skin-adapted <i>Staphylococcus aureus</i> in chronically infected patientsAnne Jamet, Xiali Fu, Céline Dietrich, et al.
The New England Journal of Medicine|August 19, 2011
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasisSlaheddine Marrakchi, Philippe Guigue, Blair R Renshaw, et al.
The Journal of Allergy and Clinical Immunology|April 14, 2020
A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndromeBahia Bekhouche, Aurore Tourville, Yamini Ravichandran, et al.
Nature|June 15, 2018
Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Nature|April 5, 2019
Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Pageof 13