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Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: nicholls k. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
Clinical features of Fabry's disease in Australian patients.
Galanos J, Nicholls K, Grigg L, Kiers L, Crawford A, Becker G. Galanos J, et al. Among authors: nicholls k. Intern Med J. 2002 Dec;32(12):575-84. doi: 10.1046/j.1445-5994.2002.00291.x. Intern Med J. 2002. PMID: 12512750
The Effect of Fabry Disease Therapy on Bone Mineral Density.
Aitken T, Tiong MK, Talbot AS, Ruderman I, Nicholls KM. Aitken T, et al. Among authors: nicholls km. Diseases. 2024 May 13;12(5):102. doi: 10.3390/diseases12050102. Diseases. 2024. PMID: 38785757 Free PMC article.
Retinal disease in the C3 glomerulopathies and the risk of impaired vision.
Savige J, Amos L, Ierino F, Mack HG, Symons RC, Hughes P, Nicholls K, Colville D. Savige J, et al. Among authors: nicholls k. Ophthalmic Genet. 2016 Dec;37(4):369-376. doi: 10.3109/13816810.2015.1101777. Epub 2016 Feb 25. Ophthalmic Genet. 2016. PMID: 26915021 Review.
235 results