Hôpital Necker-Enfants malades

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2025) Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, et al. Journal article Multidisciplinary Approach to Ectodermal Dysplasia (2025) Tadini G, Wright JT, Hadj-Rabia S, Schneider H Authored book, Textbook Long-Acting Growth Hormone Therapy in Pediatric Growth Hormone Deficiency: A Consensus Statement. (2025) Maniatis A, Cutfield W, Dattani M, Deal C, Collett-Solberg PF, Horikawa R, Maghnie M, et al. Journal article The EDELIFE clinical trial, the first investigation of a signalling molecule to treat in utero a human developmental genetic disorder (2024) Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Guillén-Navarro E, Tadini G, Clarke A Journal article, Original article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells (2024) Staniek J, Kalina T, Andrieux G, Boerries M, Janowska I, Fuentes M, Díez P, et al. Journal article A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement (2023) Schneider H, Schweikl C, Faschingbauer F, Hadj-Rabia S, Schneider P Journal article Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia (2023) Garcia-Garcia A, De Diego RP, Flores C, Rinchai D, Sole-Violan J, Deya-Martinez A, Garcia-Solis B, et al. Journal article Frequency and Predictive Factors of Hypoglycemia in Patients Treated With rhIGF-1: Data From the Eu-IGFD Registry. (2023) Bang P, Polak M, Bossowski A, Maghnie M, Argente J, Ramon-Krauel M, Sert C, et al. Journal article Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia (2023) Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, et al. Journal article