The Children's Hospital at Westmead
Hospital
Location:
Sydney,
Australia (AU)
ISNI: 000000009690854X
ROR: https://ror.org/05k0s5494
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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