Found: 13
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Genetic counselors, patients', and carers' views on an Australian clinical genetics service information system.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 5, p. 1440, doi. 10.1002/jgc4.1412
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- Article
The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults.
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- Journal of Genetic Counseling, 2015, v. 24, n. 6, p. 931, doi. 10.1007/s10897-015-9829-5
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- Article
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
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- Nature Genetics, 2007, v. 39, n. 10, p. 1261, doi. 10.1038/ng2122
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- Article
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1.
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- Familial Cancer, 2023, v. 22, n. 4, p. 499, doi. 10.1007/s10689-023-00340-5
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- Article
The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1.
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- Familial Cancer, 2022, v. 21, n. 2, p. 241, doi. 10.1007/s10689-021-00259-9
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- Article
Nanophthalmos in a Melanesian population.
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- Clinical & Experimental Ophthalmology, 2007, v. 35, n. 4, p. 348, doi. 10.1111/j.1442-9071.2007.01484.x
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- Article
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
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- British Journal of Dermatology, 2024, v. 190, n. 2, p. 216, doi. 10.1093/bjd/ljad397
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- Article
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
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- Journal of Paediatrics & Child Health, 2022, v. 58, n. 1, p. 8, doi. 10.1111/jpc.15703
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- Article
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
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- Journal of Paediatrics & Child Health, 2021, v. 57, n. 4, p. 477, doi. 10.1111/jpc.15382
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- Article
Ashkenazi Jewish population screening for Tay- Sachs disease: The International and Australian experience.
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- Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 271, doi. 10.1111/jpc.12632
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- Article
The impact of cutaneous neurofibromas on quality of life and mental health in neurofibromatosis type 1.
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- Journal of Dermatology, 2024, v. 51, n. 8, p. 1050, doi. 10.1111/1346-8138.17276
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- Article
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1091, doi. 10.1002/ajmg.a.61125
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- Article
Characterization of health concerns in people with neurofibromatosis type 1.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2077
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- Article