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Unpublished / Preprint

Publication year

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Abstract

Journal

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries (2022) Skoric-Milosavljevic D, Tadros R, Bosada FM, Tessadori F, Van Weerd JH, Woudstra O, Tjong FVY, et al. Journal article Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022) van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al. Journal article Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa (2021) De Rosa L, Enzo E, Zardi G, Bodemer C, Magnoni C, Schneider H, De Luca M Journal article High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency (2021) Yang R, Weisshaar M, Mele F, Benhsaien I, Dorgham K, Han J, Croft CA, et al. Journal article What every reader should know about studies using electronic health record data but may be afraid to ask (2021) Kohane IS, Aronow BJ, Avillach P, Beaulieu-Jones BK, Bellazzi R, Bradford RL, Brat GA, et al. Journal article, Review article Effectiveness and safety of rhIGF1 therapy in patients with or without Laron syndrome (2021) Bang P, Wölfle J, Perrot V, Sert C, Polak M Journal article Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance (2021) Rapaport F, Boisson B, Gregor A, Béziat V, Boisson-Dupuis S, Bustamante J, Jouanguy E, et al. Journal article 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