Articoli con mandati relativi all'accesso pubblico - M. EhlayelUlteriori informazioni
Disponibili pubblicamente: 6
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries
L De Beaucoudrey, A Samarina, J Bustamante, A Cobat, ...
Medicine 89 (6), 381-402, 2010
Mandati: US National Institutes of Health, Howard Hughes Medical Institute
Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...
Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017
Mandati: US National Institutes of Health
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
P Maffucci, J Chavez, TJ Jurkiw, PJ O’Brien, JK Abbott, PR Reynolds, ...
The Journal of clinical investigation 128 (12), 5489-5504, 2018
Mandati: US National Institutes of Health, Howard Hughes Medical Institute, National …
Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.
MEM Ruiz-García R, Vargas-Hernández A, Chinn IK, Angelo LS, Cao TN, Coban ...
J Allergy Clin Immunol. 142 (2), 605-617.e7. doi: 10.1016/j.jaci.2017.11., 2018
Mandati: US National Institutes of Health
Novel aspects of Kindlin‐3 function in humans based on a new case of leukocyte adhesion deficiency III
J Meller, NL Malinin, S Panigrahi, BA Kerr, A Patil, Y Ma, ...
Journal of Thrombosis and Haemostasis 10 (7), 1397-1408, 2012
Mandati: US National Institutes of Health
Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor β1 deficiency and ataxia-telangiectasia
M Ehlayel, L de Beaucoudrey, F Fike, SA Nahas, J Feinberg, ...
Journal of Allergy and Clinical Immunology 122 (6), 1217-1219, 2008
Mandati: US National Institutes of Health, Howard Hughes Medical Institute
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