Found: 15
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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Working remotely: Innovative allied health placements in response to COVID-19.
- Published in:
- International Journal of Work-Integrated Learning, 2020, v. 21, n. 5, p. 587
- By:
- Publication type:
- Article
Delineating the expanding phenotype associated with SCAPER gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
- By:
- Publication type:
- Article
How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study.
- Published in:
- Familial Cancer, 2018, v. 17, n. 1, p. 155, doi. 10.1007/s10689-017-9994-9
- By:
- Publication type:
- Article
Small Steps Towards a Speech Therapy Profession in Cambodia: Lessons Learned So Far.
- Published in:
- Perspectives of the ASHA Special Interest Groups, 2017, v. 2, n. 17, p. 104, doi. 10.1044/persp2.SIG17.104
- By:
- Publication type:
- Article
Low uptake of Aboriginal interpreters in healthcare: exploration of current use in Australia's Northern Territory.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006470
- By:
- Publication type:
- Article
Further defining the phenotypic spectrum of B4GALT7 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1556, doi. 10.1002/ajmg.a.37604
- By:
- Publication type:
- Article
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1017, doi. 10.1002/ajmg.a.37436
- By:
- Publication type:
- Article
Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: The Lililwan.
- Published in:
- Journal of Paediatrics & Child Health, 2015, v. 51, n. 4, p. 450, doi. 10.1111/jpc.12814
- By:
- Publication type:
- Article
CONDUCTING COMMUNICATION ASSESSMENTS WITH SCHOOL AGED ABORIGINAL CHILDREN IN THE KIMBERLEY REGION OF AUSTRALIA.
- Published in:
- Australian Review of Applied Linguistics, 2013, v. 36, n. 3, p. 316
- By:
- Publication type:
- Article
After Unit 1421: an exploratory study into female students attitudes and behaviours towards binge drinking at Leeds University.
- Published in:
- Journal of Public Health, 2008, v. 30, n. 1, p. 8, doi. 10.1093/pubmed/fdm083
- By:
- Publication type:
- Article