Hôpital Necker-Enfants malades

Hospital


Location: Paris, France (FR) FR

ISNI: 0000000405939113

ROR: https://ror.org/05tr67282

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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Unpublished / Preprint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

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations. (2021) Thalhammer J, Kindle G, Nieters A, Rusch S, Seppanen MRJ, Fische A, Grimbacher B, et al. Journal article Rubella vaccine–induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity (2021) Groß M, Speckmann C, May A, Gajardo-Carrasco T, Wustrau K, Maier SL, Panning M, et al. Journal article PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders (2021) Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, et al. Journal article Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype (2021) Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, et al. Journal article Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) (2020) Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, et al. Journal article CONTRIBUTION OF DEFECTIVE NON-APOPTOTIC FAS SIGNALING TO IMMUNE DYSREGULATION IN AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS) (2020) Staniek J, Kalina T, Andrieux G, Boerries M, Janowska I, Fuentes M, Bakardjieva M, et al. Conference contribution MDCT ARTHROGRAPHY ASSESSMENT OF THE SEVERITY OF CARTILAGE DAMAGE AND SCAPHOLUNATE DISSOCIATION REGARDING SPECIFIC-COMPONENT TEARS OF THE SCAPHOLUNATE INTEROSSEOUS LIGAMENT (2020) Crema MD, Quere JB, Phan C, Guermazi A, Roemer F, Miquel A, Arrive L Conference contribution Rivaroxaban compared with standard anticoagulants for the treatment of acute venous thromboembolism in children: a randomised, controlled, phase 3 trial. (2020) Male C, Lensing AW, Palumbo JS, Kumar R, Nurmeev I, Hege K, Bonnet D, et al. Journal article New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, et al. Journal article De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020) Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, et al. Journal article
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