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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014.
Genes (Basel). 2021.
PMID: 34946966
Free PMC article.
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.
Bartnik M, et al. Among authors: goszczanska ciuchta a.
Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23.
Am J Med Genet B Neuropsychiatr Genet. 2012.
PMID: 22825934
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A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.
Lugowska A, Mierzewska H, Bekiesińska-Figatowska M, Szczepanik E, Goszczańska-Ciuchta A, Bednarska-Makaruk M.
Lugowska A, et al. Among authors: goszczanska ciuchta a.
J Neurol Sci. 2014 Mar 15;338(1-2):214-7. doi: 10.1016/j.jns.2013.12.030. Epub 2013 Dec 31.
J Neurol Sci. 2014.
PMID: 24411407
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From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.
Hoffman-Zacharska D, Szczepanik E, Terczynska I, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Tataj R, Bal J.
Hoffman-Zacharska D, et al. Among authors: goszczanska ciuchta a.
Neurol Neurochir Pol. 2015;49(4):258-66. doi: 10.1016/j.pjnns.2015.06.006. Epub 2015 Jun 20.
Neurol Neurochir Pol. 2015.
PMID: 26188943
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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: goszczanska ciuchta a.
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.
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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: goszczanska ciuchta a.
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.
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Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.
Dawidziuk M, Podwysocka A, Jurek M, Obersztyn E, Bekiesinska-Figatowska M, Goszczanska-Ciuchta A, Bukowska-Olech E, Rygiel AM, Guilbride DL, Wiszniewski W, Gawlinski P.
Dawidziuk M, et al. Among authors: goszczanska ciuchta a.
J Appl Genet. 2023 Sep;64(3):507-514. doi: 10.1007/s13353-023-00773-9. Epub 2023 Aug 21.
J Appl Genet. 2023.
PMID: 37599337
Free PMC article.
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The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.
Zayat V, Kuczynska Z, Liput M, Metin E, Rzonca-Niewczas S, Smyk M, Mazurczak T, Goszczanska-Ciuchta A, Leszczynski P, Hoffman-Zacharska D, Buzanska L.
Zayat V, et al. Among authors: goszczanska ciuchta a.
Cells. 2023 Jan 16;12(2):339. doi: 10.3390/cells12020339.
Cells. 2023.
PMID: 36672274
Free PMC article.
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