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Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1.
Rance G, Zanin J, Maier A, Chisari D, Haebich KM, North KN, Dabscheck G, Seal ML, Delatycki MB, Payne JM. Rance G, et al. Among authors: delatycki mb. JAMA Netw Open. 2021 Dec 1;4(12):e2136842. doi: 10.1001/jamanetworkopen.2021.36842. JAMA Netw Open. 2021. PMID: 34870681 Free PMC article.
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA, Vanderver A, Lockhart PJ, Helman G, Pope K, Uebergang E, Love C, Delatycki MB, Thorburn D, Mackay MT, Peters H, Kornberg AJ, Patel C, Rodriguez-Casero V, Waak M, Silberstein J, Sinclair A, Nolan M, Field M, Davis MR, Fahey M, Scheffer IE, Freeman JL, Wolf NI, Taft RJ, van der Knaap MS, Simons C, Leventer RJ. Stutterd CA, et al. Among authors: delatycki mb. Eur J Med Genet. 2022 Sep;65(9):104551. doi: 10.1016/j.ejmg.2022.104551. Epub 2022 Jul 5. Eur J Med Genet. 2022. PMID: 35803560
Genetic factors in athetoid cerebral palsy.
Amor DJ, Craig JE, Delatycki MB, Reddihough D. Amor DJ, et al. Among authors: delatycki mb. J Child Neurol. 2001 Nov;16(11):793-7. doi: 10.1177/08830738010160110301. J Child Neurol. 2001. PMID: 11732763
A comparison of self-reported and record-linked blood donation history in an Australian cohort.
Bertalli NA, Allen KJ, McLaren CE, Turkovic L, Osborne NJ, Constantine CC, Delatycki MB, English DR, Giles GG, Hopper JL, Anderson GJ, Olynyk JK, Powell LW, Gurrin LC; HealthIron Study Investigators. Bertalli NA, et al. Among authors: delatycki mb. Transfusion. 2011 Oct;51(10):2189-98. doi: 10.1111/j.1537-2995.2011.03141.x. Epub 2011 Apr 19. Transfusion. 2011. PMID: 21985049
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.
Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR. Shinnick JE, et al. Among authors: delatycki mb. J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. Epub 2016 Apr 12. J Child Neurol. 2016. PMID: 27071470
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: delatycki mb. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
441 results