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Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E, Beć-Gajowniczek M, Sivitskaya L, Gregorczyk E, Łyszkiewicz P, Szymańczak R, Jędrzejowska M, Wylęgała E, Krawczyński MR, Teper S, Boguszewska-Chachulska A. Matczyńska E, et al. Among authors: boguszewska chachulska a. Biomedicines. 2024 Jun 18;12(6):1355. doi: 10.3390/biomedicines12061355. Biomedicines. 2024. PMID: 38927562 Free PMC article.
A deep learning approach to explore the association of age-related macular degeneration polygenic risk score with retinal optical coherence tomography: A preliminary study.
Sendecki A, Ledwoń D, Nycz J, Wąsowska A, Boguszewska-Chachulska A, Mitas AW, Wylęgała E, Teper S. Sendecki A, et al. Among authors: boguszewska chachulska a. Acta Ophthalmol. 2024 Nov;102(7):e1029-e1039. doi: 10.1111/aos.16710. Epub 2024 May 18. Acta Ophthalmol. 2024. PMID: 38761033
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Matczyńska E, Szymańczak R, Stradomska K, Łyszkiewicz P, Jędrzejowska M, Kamińska K, Beć-Gajowniczek M, Suchecka E, Zagulski M, Wiącek M, Wylęgała E, Machalińska A, Mossakowska M, Puzianowska-Kuźnicka M, Teper S, Boguszewska-Chachulska A. Matczyńska E, et al. Among authors: boguszewska chachulska a. Genes (Basel). 2024 Aug 1;15(8):1011. doi: 10.3390/genes15081011. Genes (Basel). 2024. PMID: 39202371 Free PMC article.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF. Oliver KL, et al. Among authors: boguszewska chachulska am. Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929. Ann Neurol. 2017. PMID: 28380698
21 results