Institut des maladies génétiques Imagine

Research facility


Location: Paris, France (FR) FR

ISNI: -

ROR: https://ror.org/05rq3rb55

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency (2022) Ogishi M, Arias AA, Yang R, Han JE, Zhang P, Rinchai D, Halpern J, et al. Journal article Клинические практические рекомендации IPNA по диагностике и лечению детей со стероид-резистентным нефротическим синдромом (2021) Trautmann A, Vivarelli M, Samuel S, Gipson D, Sinha A, Schaefer F, Hui NK, et al. Journal article Inherited human IFN-γ deficiency underlies mycobacterial disease (2020) Kerner G, Rosain J, Guérin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, et al. Journal article Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020) Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al. Journal article IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome (2020) Trautmann A, Vivarelli M, Samuel S, Gipson D, Sinha A, Schaefer F, Hui NK, et al. Journal article, Review article Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome (2018) Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, et al. Journal article Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly (2017) Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, et al. Journal article