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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: steinborn b. 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.
Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.
Winczewska-Wiktor A, Hoffman-Zacharska D, Starczewska M, Kaczmarek I, Badura-Stronka M, Steinborn B. Winczewska-Wiktor A, et al. Among authors: steinborn b. Epilepsy Behav. 2020 May;106:107036. doi: 10.1016/j.yebeh.2020.107036. Epub 2020 Apr 1. Epilepsy Behav. 2020. PMID: 32247176
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B. Paprocka J, et al. Among authors: steinborn b. Genes (Basel). 2023 Apr 25;14(5):972. doi: 10.3390/genes14050972. Genes (Basel). 2023. PMID: 37239332 Free PMC article.
Temporomandibular disorders in adolescents with headache.
Sojka A, Żarowski M, Steinborn B, Hedzelek W, Wiśniewska-Spychała B, Dorocka-Bobkowska B. Sojka A, et al. Among authors: steinborn b. Adv Clin Exp Med. 2018 Feb;27(2):193-199. doi: 10.17219/acem/64945. Adv Clin Exp Med. 2018. PMID: 29521062 Free article.
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
Shaw M, Winczewska-Wiktor A, Badura-Stronka M, Koirala S, Gardner A, Kuszel Ł, Kowal P, Steinborn B, Starczewska M, Garry S, Scheffer IE, Berkovic SF, Gecz J. Shaw M, et al. Among authors: steinborn b. Eur J Med Genet. 2020 Apr;63(4):103799. doi: 10.1016/j.ejmg.2019.103799. Epub 2019 Oct 23. Eur J Med Genet. 2020. PMID: 31655144
81 results