Hôpital Necker-Enfants malades

Near-Adult Height Outcomes in Patients Treated With rhIGF-1 for Severe Growth Failure: Real-World IGFD Registry Data (2026) Ramon-Krauel M, Polak M, Maghnie M, Wölfle J, Sert C, Perrot V, Bang P Journal article Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139) (2025) Zerad L, Didry-Barca B, Banal C, Onteniente B, Lefort N, Lepelley A, Seabra L, et al. Journal article Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study (2025) Roesch S, O'Sullivan A, Tschani S, Baghdasaryan A, Balasubramaniam S, Barić I, de Boer L, et al. Journal article 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 A database study of the safety and effectiveness of daily growth hormone in treating more than 80,000 children with growth disorders worldwide: a plain language summary of publication (2025) Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibáñez L, Carlsson M, Cutfield W, et al. Journal article, Review article Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (2025) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, et al. Journal article 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 Multidisciplinary Approach to Ectodermal Dysplasia (2025) Tadini G, Wright JT, Hadj-Rabia S, Schneider H Authored book, Textbook 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