Found: 8
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Acceptance and Commitment Therapy in Genetic Counselling: A Case Study of Recurrent Worry.
- Published in:
- Journal of Genetic Counseling, 2013, v. 22, n. 3, p. 296, doi. 10.1007/s10897-012-9558-y
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- Publication type:
- Article
Initiating an undiagnosed diseases program in the Western Australian public health system.
- Published in:
- 2017
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- Publication type:
- journal article
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00161-w
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- Publication type:
- Article
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
- Published in:
- BMC Musculoskeletal Disorders, 2014, v. 15, n. 1, p. 107, doi. 10.1186/1471-2474-15-107
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- Publication type:
- Article
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Australian guidelines for the management of children with achondroplasia.
- Published in:
- Journal of Paediatrics & Child Health, 2023, v. 59, n. 2, p. 229, doi. 10.1111/jpc.16290
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- Publication type:
- Article
Silver Russel syndrome in an aboriginal patient from Australia.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2561, doi. 10.1002/ajmg.a.40502
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- Publication type:
- Article