Loading Filters
Showing 1–4 of 4 results
-
Research |
-
Research |
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
- Bertrand Boisson
- , Emmanuel Laplantine
- , Carolina Prando
- , Silvia Giliani
- , Elisabeth Israelsson
- , Zhaohui Xu
- , Avinash Abhyankar
- , Laura Israël
- , Giraldina Trevejo-Nunez
- , Dusan Bogunovic
- , Alma-Martina Cepika
- , Donna MacDuff
- , Maya Chrabieh
- , Marjorie Hubeau
- , Fanny Bajolle
- , Marianne Debré
- , Evelina Mazzolari
- , Donatella Vairo
- , Fabrice Agou
- , Herbert W Virgin
- , Xavier Bossuyt
- , Caroline Rambaud
- , Fabio Facchetti
- , Damien Bonnet
- , Pierre Quartier
- , Jean-Christophe Fournet
- , Virginia Pascual
- , Damien Chaussabel
- , Luigi D Notarangelo
- , Anne Puel
- , Alain Israël
- , Jean-Laurent Casanova
- & Capucine Picard
-
Research |
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
- Giulia Barcia
- , Matthew R Fleming
- , Aline Deligniere
- , Valeswara-Rao Gazula
- , Maile R Brown
- , Maeva Langouet
- , Haijun Chen
- , Jack Kronengold
- , Avinash Abhyankar
- , Roberta Cilio
- , Patrick Nitschke
- , Anna Kaminska
- , Nathalie Boddaert
- , Jean-Laurent Casanova
- , Isabelle Desguerre
- , Arnold Munnich
- , Olivier Dulac
- , Leonard K Kaczmarek
- , Laurence Colleaux
- & Rima Nabbout
-
Research |
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells
- Fabien G. Lafaille
- , Itai M. Pessach
- , Shen-Ying Zhang
- , Michael J. Ciancanelli
- , Melina Herman
- , Avinash Abhyankar
- , Shui-Wang Ying
- , Sotirios Keros
- , Peter A. Goldstein
- , Gustavo Mostoslavsky
- , Jose Ordovas-Montanes
- , Emmanuelle Jouanguy
- , Sabine Plancoulaine
- , Edmund Tu
- , Yechiel Elkabetz
- , Saleh Al-Muhsen
- , Marc Tardieu
- , Thorsten M. Schlaeger
- , George Q. Daley
- , Laurent Abel
- , Jean-Laurent Casanova
- , Lorenz Studer
- & Luigi D. Notarangelo
