Aïcha Salhi

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 282 citations

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere, Nicole Revençu, Raphaël Helaers et al. · Circulation · 2017 · 282 citations · Full text

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

Romain Lévy, Satoshi Okada, Vivien Béziat et al. · Proceedings of the National Academy of Sciences · 2016 · 166 citations · Full text

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle et al. · The American Journal of Human Genetics · 2009 · 148 citations · Full text

Inflammation, Protein Quality Control, Oxysterol +14

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

Bert Callewaert, Chi-Ting Su, Tim Van Damme et al. · Human Mutation · 2012 · 83 citations · Full text

Inflammatory Lung Disease, Lung Inflammation, Recessive Cutis Laxa +22