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 Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (European Journal of Human Genetics, (2025), 33, 8, (989-996), 10.1038/s41431-025-01884-z) (2026) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsma EK, et al. Journal article, Erratum 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