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Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, Sasiadek M, Kochanowska I, Gurda B, Steinborn B, Dawidziuk M, Castaneda J, Wlasienko P, Bezniakow N, Jhangiani SN, Hoffman-Zacharska D, Bal J, Szczepanik E, Boerwinkle E, Gibbs RA, Lupski JR. Wiszniewski W, et al. Among authors: iwanowski p. Eur J Hum Genet. 2018 Aug;26(8):1121-1131. doi: 10.1038/s41431-018-0137-z. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706646 Free PMC article.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P. Mitani T, et al. Among authors: iwanowski p. Am J Hum Genet. 2019 Nov 7;105(5):1005-1015. doi: 10.1016/j.ajhg.2019.09.017. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630790 Free PMC article.
Advances in the Potential Biomarkers of Epilepsy.
Kobylarek D, Iwanowski P, Lewandowska Z, Limphaibool N, Szafranek S, Labrzycka A, Kozubski W. Kobylarek D, et al. Among authors: iwanowski p. Front Neurol. 2019 Jul 2;10:685. doi: 10.3389/fneur.2019.00685. eCollection 2019. Front Neurol. 2019. PMID: 31312171 Free PMC article. Review.
Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.
Trubicka J, Filipek I, Iwanowski P, Rydzanicz M, Grajkowska W, Piekutowska-Abramczuk D, Chrzanowska K, Karkucińska-Więckowska A, Iwanicka-Pronicka K, Pronicki M, Łastowska M, Płoski R, Dembowska-Bagińska B. Trubicka J, et al. Among authors: iwanowski p. Cancer Genet. 2017 Oct;216-217:79-85. doi: 10.1016/j.cancergen.2017.07.001. Epub 2017 Jul 20. Cancer Genet. 2017. PMID: 29025599
Genetic diseases mimicking multiple sclerosis.
Hsu CL, Iwanowski P, Hsu CH, Kozubski W. Hsu CL, et al. Among authors: iwanowski p. Postgrad Med. 2021 Sep;133(7):728-749. doi: 10.1080/00325481.2021.1945898. Epub 2021 Jul 6. Postgrad Med. 2021. PMID: 34152933 Review.
Primary progressive multiple sclerosis and neurofibromatosis type 1.
Iwanowski P, Kowalska M, Prendecki M, Dorszewska J, Kozubski W, Rydzanicz M, Płoski R, Losy J. Iwanowski P, et al. Mult Scler Relat Disord. 2019 Jul;32:66-69. doi: 10.1016/j.msard.2019.04.016. Epub 2019 Apr 25. Mult Scler Relat Disord. 2019. PMID: 31048186
51 results