The Children's Hospital at Westmead

Hospital


Location: Sydney

ISNI: 000000009690854X

ROR: https://ror.org/05k0s5494

Show on Map:

close-button

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Unpublished / Preprint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

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 Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. (2025) De Hayr L, Blok LE, Dias KR, Long J, Begemann A, Moir RD, Willis IM, et al. Journal article Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021) Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al. Journal article Genome sequencing in families with congenital limb malformations (2021) Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, et al. Journal article Long-term, open-label extension study of the efficacy and safety of epicutaneous immunotherapy for peanut allergy in children: PEOPLE 3-year results (2020) Fleischer DM, Shreffler WG, Campbell DE, Green TD, Anvari S, Assa'ad A, Bégin P, et al. Journal article Speed of shortening is not altered in the alpha-actinin-3 (ACTN3) 'gene of speed' knock-out mutation in fast-twitch skeletal muscle (2015) Wagner S, Chan S, Murphy R, Houweling P, Quinlan K, North K, Head S, Friedrich O Conference contribution