المؤلفون: Johnston, M, Warton, C, Pertile, MD, Taylor-Sands, M, Delatycki, MB, Hui, L, Savulescu, J, Mills, C

العلاقة: Johnston, M., Warton, C., Pertile, M. D., Taylor-Sands, M., Delatycki, M. B., Hui, L., Savulescu, J. & Mills, C. (2023). Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy. PRENATAL DIAGNOSIS, 43 (2), pp.226-234. https://doi.org/10.1002/pd.6217Test.; http://hdl.handle.net/11343/338485Test

الإتاحة: https://doi.org/10.1002/pd.6217Test
http://hdl.handle.net/11343/338485Test

المؤلفون: Read, JL, Davies, KC, Thompson, GC, Delatycki, MB, Lockhart, PJ

المساهمون: Yuen, R

العلاقة: pii: 233651; Read, J. L., Davies, K. C., Thompson, G. C., Delatycki, M. B. & Lockhart, P. J. (2023). Challenges facing repeat expansion identification, characterisation, and the pathway to discovery. Emerging Topics in Life Sciences, 7 (3), pp.339-348. https://doi.org/10.1042/ETLS20230019Test.; http://hdl.handle.net/11343/338170Test

الإتاحة: https://doi.org/10.1042/ETLS20230019Test
http://hdl.handle.net/11343/338170Test

المؤلفون: Dowling, G, Tiller, J, McInerney-Leo, A, Belcher, A, Haining, C, Barlow-Stewart, K, Boughtwood, T, Gleeson, P, Delatycki, MB, Winship, I, Otlowski, M, Jacobs, C, Keogh, L, Lacaze, P

العلاقة: pii: 10.1038/s41431-022-01150-6; Dowling, G., Tiller, J., McInerney-Leo, A., Belcher, A., Haining, C., Barlow-Stewart, K., Boughtwood, T., Gleeson, P., Delatycki, M. B., Winship, I., Otlowski, M., Jacobs, C., Keogh, L. & Lacaze, P. (2022). Health professionals' views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study. EUROPEAN JOURNAL OF HUMAN GENETICS, 30 (11), pp.1262-1268. https://doi.org/10.1038/s41431-022-01150-6Test.; http://hdl.handle.net/11343/318140Test

الإتاحة: https://doi.org/10.1038/s41431-022-01150-6Test
http://hdl.handle.net/11343/318140Test

المؤلفون: Kirk, EP, Delatycki, MB, Laing, N

العلاقة: Kirk, E. P., Delatycki, M. B. & Laing, N. (2022). Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard. J Inherit Metab Dis, 45 (5), pp.902-906. https://doi.org/10.1002/jimd.12505Test.; http://hdl.handle.net/11343/310705Test

الإتاحة: https://doi.org/10.1002/jimd.12505Test
http://hdl.handle.net/11343/310705Test

المؤلفون: Rodden, LN, Rummey, C, Dong, YN, Lagedrost, S, Regner, S, Brocht, A, Bushara, K, Delatycki, MB, Gomez, CM, Mathews, K, Murray, S, Perlman, S, Ravina, B, Subramony, SH, Wilmot, G, Zesiewicz, T, Bolotta, A, Domissy, A, Jespersen, C, Ji, B, Soragni, E, Gottesfeld, JM, Lynch, DR

العلاقة: pii: 933788; Rodden, L. N., Rummey, C., Dong, Y. N., Lagedrost, S., Regner, S., Brocht, A., Bushara, K., Delatycki, M. B., Gomez, C. M., Mathews, K., Murray, S., Perlman, S., Ravina, B., Subramony, S. H., Wilmot, G., Zesiewicz, T., Bolotta, A., Domissy, A., Jespersen, C. ,. Lynch, D. R. (2022). A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia. Front Mol Biosci, 9, pp.933788-. https://doi.org/10.3389/fmolb.2022.933788Test.; http://hdl.handle.net/11343/322179Test

الإتاحة: https://doi.org/10.3389/fmolb.2022.933788Test
http://hdl.handle.net/11343/322179Test

المؤلفون: Rafehi, H, Green, C, Bozaoglu, K, Gillies, G, Delatycki, MB, Lockhart, PJ, Scheffer, IE, Bahlo, M

العلاقة: NHMRC/1044175; NHMRC/1006110; NHMRC/APP1032364; NHMRC/1104831; NHMRC/1098255; pii: 10.1038/s41431-022-01166-y; Rafehi, H., Green, C., Bozaoglu, K., Gillies, G., Delatycki, M. B., Lockhart, P. J., Scheffer, I. E. & Bahlo, M. (2022). Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. EUROPEAN JOURNAL OF HUMAN GENETICS, 31 (1), pp.122-124. https://doi.org/10.1038/s41431-022-01166-yTest.; http://hdl.handle.net/11343/318134Test

الإتاحة: https://doi.org/10.1038/s41431-022-01166-yTest
http://hdl.handle.net/11343/318134Test

المؤلفون: Rance, G, Maier, A, Zanin, J, Haebich, KM, North, KN, Orsini, F, Dabscheck, G, Delatycki, MB, Payne, JM

العلاقة: pii: 10.1007/s10072-022-06203-8; Rance, G., Maier, A., Zanin, J., Haebich, K. M., North, K. N., Orsini, F., Dabscheck, G., Delatycki, M. B. & Payne, J. M. (2022). A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1. NEUROLOGICAL SCIENCES, 43 (9), https://doi.org/10.1007/s10072-022-06203-8Test.; http://hdl.handle.net/11343/316628Test

الإتاحة: https://doi.org/10.1007/s10072-022-06203-8Test
http://hdl.handle.net/11343/316628Test

المؤلفون: Corben, LA, Collins, V, Milne, S, Farmer, J, Musheno, A, Lynch, D, Subramony, S, Pandolfo, M, Schulz, JB, Lin, K, Delatycki, MB

العلاقة: pii: 10.1186/s13023-022-02568-3; Corben, L. A., Collins, V., Milne, S., Farmer, J., Musheno, A., Lynch, D., Subramony, S., Pandolfo, M., Schulz, J. B., Lin, K. & Delatycki, M. B. (2022). Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. ORPHANET JOURNAL OF RARE DISEASES, 17 (1), https://doi.org/10.1186/s13023-022-02568-3Test.; http://hdl.handle.net/11343/330085Test

الإتاحة: https://doi.org/10.1186/s13023-022-02568-3Test
http://hdl.handle.net/11343/330085Test

المؤلفون: Rummey, C, Harding, IH, Delatycki, MB, Tai, G, Rezende, T, Corben, LA

العلاقة: Rummey, C., Harding, I. H., Delatycki, M. B., Tai, G., Rezende, T. & Corben, L. A. (2022). Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS. Ann Clin Transl Neurol, 9 (12), pp.2041-2046. https://doi.org/10.1002/acn3.51686Test.; http://hdl.handle.net/11343/335502Test

الإتاحة: https://doi.org/10.1002/acn3.51686Test
http://hdl.handle.net/11343/335502Test

المؤلفون: Georgiou-Karistianis, N, Corben, LA, Reetz, K, Adanyeguh, IM, Corti, M, Deelchand, DK, Delatycki, MB, Dogan, I, Evans, R, Farmer, J, França, MC, Gaetz, W, Harding, IH, Harris, KS, Hersch, S, Joules, R, Joers, JJ, Krishnan, ML, Lax, M, Lock, EF, Lynch, D, Mareci, T, Muthuhetti Gamage, S, Pandolfo, M, Papoutsi, M, Rezende, TJR, Roberts, TPL, Rosenberg, JT, Romanzetti, S, Schulz, JB, Schilling, T, Schwarz, AJ, Subramony, S, Yao, B, Zicha, S, Lenglet, C, Henry, P-G

المساهمون: Bergsland, N

العلاقة: pii: PONE-D-21-38765; Georgiou-Karistianis, N., Corben, L. A., Reetz, K., Adanyeguh, I. M., Corti, M., Deelchand, D. K., Delatycki, M. B., Dogan, I., Evans, R., Farmer, J., França, M. C., Gaetz, W., Harding, I. H., Harris, K. S., Hersch, S., Joules, R., Joers, J. J., Krishnan, M. L., Lax, M. ,. Henry, P. -G. (2022). A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol. PLoS One, 17 (11), pp.e0269649-. https://doi.org/10.1371/journal.pone.0269649Test.; http://hdl.handle.net/11343/335501Test

الإتاحة: https://doi.org/10.1371/journal.pone.0269649Test
http://hdl.handle.net/11343/335501Test