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Page 1
Simultaneous Entrainment Response Assessment at Multiple Sites.
Derejko P, Podziemski P, Bardyszewski A, Kuklik P, Kuśnierz J, Szumowski ŁJ, Stępień K, Dzwonkowska D, Polańska-Skrzypczyk M, Walczak F, Żebrowski JJ, Pürerfellner H. Derejko P, et al. Among authors: stepien k. JACC Clin Electrophysiol. 2022 Nov;8(11):1381-1390. doi: 10.1016/j.jacep.2022.07.013. Epub 2022 Sep 28. JACC Clin Electrophysiol. 2022. PMID: 36424006 Free article.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: stepien km. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
Novel genetic variants potentially associated with the pathogenesis of coronary artery aneurysm: whole exome sequencing analysis.
Iwańczyk S, Lehmann T, Pławski A, Woźniak P, Hertel A, Araszkiewicz A, Stępień K, Krupka G, Grygier M, Lesiak M, Jagodziński PP. Iwańczyk S, et al. Among authors: stepien k. Hellenic J Cardiol. 2024 Feb 26:S1109-9666(24)00031-9. doi: 10.1016/j.hjc.2024.02.007. Online ahead of print. Hellenic J Cardiol. 2024. PMID: 38417579 Free article. No abstract available.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D. Aldrian D, et al. Among authors: stepien km. J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20. J Inherit Metab Dis. 2024. PMID: 38375550
A Prospective, Observational, Noninterventional Clinical Study of Participants With Choroideremia: The NIGHT Study.
Maclaren RE, Lam BL, Fischer MD, Holz FG, Pennesi ME, Birch DG, Sankila EM, Meunier IA, Stepien KE, Sallum JMF, Li J, Yoon D, Panda S, Gow JA; NIGHT Study Group. Maclaren RE, et al. Among authors: stepien ke. Am J Ophthalmol. 2024 Feb 3;263:35-49. doi: 10.1016/j.ajo.2024.01.022. Online ahead of print. Am J Ophthalmol. 2024. PMID: 38311152
331 results