المؤلفون: Souzeau, E., Siggs, O.M., Mullany, S., Schmidt, J.M., Hassall, M.M., Dubowsky, A., Chappell, A., Breen, J., Bae, H., Nicholl, J., Hadler, J., Kearns, L.S., Staffieri, S.E., Hewitt, A.W., Mackey, D.A., Gupta, A., Burdon, K.P., Klebe, S., Craig, J.E., Mills, R.A.

المصدر: http://dx.doi.org/10.1002/mgg3.2023Test.

مصطلحات موضوعية: corneal dystrophy, genetic testing, molecular diagnosis, TGFBI

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/GNT1116360Test; http://purl.org/au-research/grants/nhmrc/GNT1154824Test; Molecular Genetics and Genomic Medicine, 2022; 10(10):1-15; https://hdl.handle.net/2440/136445Test; Schmidt, J.M. [0000-0002-5862-7389]; Hassall, M.M. [0000-0002-6180-7954]; Breen, J. [0000-0001-6184-0925]

الإتاحة: https://doi.org/10.1002/mgg3.2023Test
https://hdl.handle.net/2440/136445Test

المؤلفون: Zhou, T., Souzeau, E., Sharma, S., Siggs, O.M., Goldberg, I., Healey, P.R., Graham, S., Hewitt, A.W., Mackey, D.A., Casson, R.J., Landers, J., Mills, R., Ellis, J., Leo, P., Brown, M.A., MacGregor, S., Burdon, K.P., Craig, J.E.

المصدر: http://dx.doi.org/10.1002/mgg3.248Test.

مصطلحات موضوعية: CARD10, genome‐wide association study, rare variants, whole exome sequencing

وصف الملف: application/pdf

العلاقة: ARC; NHMRC; Molecular Genetics and Genomic Medicine, 2016; 4(6):624-633; http://hdl.handle.net/2440/106830Test; Casson, R.J. [0000-0003-2822-4076]

الإتاحة: https://doi.org/10.1002/mgg3.248Test
http://hdl.handle.net/2440/106830Test

المؤلفون: Sue, C.M., Balasubramaniam, S., Bratkovic, D., Bonifant, C., Christodoulou, J., Coman, D., Crawley, K., Edema‐Hildebrand, F., Ellaway, C., Ghaoui, R., Kava, M., Kearns, L.S., Lee, J., Liang, C., Mackey, D.A., Murray, S., Needham, M., Rius, R., Russell, J., Smith, N.J.C., Thyagarajan, D., Wools, C.

المصدر: Sue, C.M., Balasubramaniam, S., Bratkovic, D., Bonifant, C., Christodoulou, J., Coman, D., Crawley, K., Edema‐Hildebrand, F., Ellaway, C., Ghaoui, R., Kava, M., Kearns, L.S., Lee, J., Liang, C., Mackey, D.A., Murray, S., Needham, M. , Rius, R., Russell, J., Smith, N.J.C., Thyagarajan, D. and Wools, C. (2021) Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Internal Medicine Journal, 52 (1). pp. 110-120.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/63082Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/63082Test/