The Royal Children's Hospital Melbourne

Hospital


Location: Melbourne, Australia (AU) AU

ISNI: 0000000406140346

ROR: https://ror.org/02rktxt32

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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Unpublished / Preprint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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To

Abstract

Journal

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function (2025) Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, et al. Journal article Status of surface electromyography assessment as part of clinical gait analysis in the management of patients with cerebral palsy – Outcomes of a Delphi process (2025) Reisig R, Alexander N, Armand S, Barton GJ, Böhm H, Boulay C, Brunner R, et al. Journal article ETOPOSIDE FOR PRIMARY HLH - BETTER THAN ITS REPUTATION (2023) Lehmberg K, Ledig S, Wustrau K, Kontny U, Westphal S, Hundsdoerfer P, Jorch N, et al. Conference contribution 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 Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders (2020) Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, et al. Journal article Guidelines and definitions for research on epithelial–mesenchymal transition (2020) Yang J, Antin P, Berx G, Blanpain C, Brabletz T, Bronner M, Campbell K, et al. Journal article, Review article De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019) Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Journal article