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Page 1
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: gasperowicz p. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Epigenetic Findings in Twins with Esophageal Atresia.
Błoch M, Gasperowicz P, Gerus S, Rasiewicz K, Lebioda A, Skiba P, Płoski R, Patkowski D, Karpiński P, Śmigiel R. Błoch M, et al. Among authors: gasperowicz p. Genes (Basel). 2023 Sep 20;14(9):1822. doi: 10.3390/genes14091822. Genes (Basel). 2023. PMID: 37761962 Free PMC article.
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact.
Mrozikiewicz-Rakowska B, Szabłowska-Gadomska I, Cysewski D, Rudziński S, Płoski R, Gasperowicz P, Konarzewska M, Zieliński J, Mieczkowski M, Sieńko D, Grzela T, Noszczyk M, Paleska B, Czupryniak L, Lewandowska-Szumiel M. Mrozikiewicz-Rakowska B, et al. Among authors: gasperowicz p. Int J Mol Sci. 2023 Jan 12;24(2):1472. doi: 10.3390/ijms24021472. Int J Mol Sci. 2023. PMID: 36674989 Free PMC article.
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report.
Klaniewska M, Toczewski K, Rozensztrauch A, Bloch M, Dzielendziak A, Gasperowicz P, Slezak R, Ploski R, Rydzanicz M, Smigiel R, Patkowski D. Klaniewska M, et al. Among authors: gasperowicz p. Front Pediatr. 2021 Dec 2;9:783553. doi: 10.3389/fped.2021.783553. eCollection 2021. Front Pediatr. 2021. PMID: 34926353 Free PMC article.
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R. Materna-Kiryluk A, et al. Among authors: gasperowicz p. Hum Mol Genet. 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. Hum Mol Genet. 2021. PMID: 33517393
30 results