Meyer Children’s Hospital

Hospital


Location: Florence, Italy (IT) IT

ROR: https://ror.org/01n2xwm51

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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Unpublished / Preprint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

From
To

Abstract

Journal

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 Seizure outcomes following epilepsy surgery in pediatric and young adult patients with high-grade brain tumors: Results from a European survey (2025) Lersch R, Hartlieb T, Pieper T, Kudernatsch M, Hofer W, Barba C, Guerrini R, et al. Journal article Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling (2024) Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, et al. Journal article Clinical Features, Neuropathology, and Surgical Outcome in Patients with Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene (2023) Barba C, Blümcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, et al. Journal article