Search Results - Łukasz Kępczyński

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  1. 1
    Acral peeling skin syndrome

    Acral peeling skin syndrome by Daria Gierach, Łukasz Kępczyński

    Published 2023-11-01
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  2. 2
    Asymmetric crying facies – its meaning in the differential diagnosis of congenital developmental abnormalities

    Asymmetric crying facies – its meaning in the differential diagnosis of congenital developmental abnormalities by Agata Michalska, Katarzyna Połatyńska, Łukasz Kępczyński, Maciej Szczukocki

    Published 2019-12-01
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  3. 3
    Severe multi-organ trauma complicated with SARS-CoV-2 infection in Polish child trauma signs obscuring coronaviral infection

    Severe multi-organ trauma complicated with SARS-CoV-2 infection in Polish child trauma signs obscuring coronaviral infection by Katarzyna Połatyńska, Łukasz Kępczyński, Marta Jankowska, Magdalena Pokorska, Piotr Grzelak, Łukasz Przysło

    Published 2020-01-01
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  4. 4
    No evidence for change in expression of TBC1D1 and TBC1D4 genes in cultured human adipocytes stimulated by myokines and adipokines

    No evidence for change in expression of TBC1D1 and TBC1D4 genes in cultured human adipocytes stimulated by myokines and adipokines by Łukasz Kępczyński, Szymon Wcisło, Irmina Korzeniewska-Dyl, Katarzyna Połatyńska, Agnieszka Gach, Dariusz Moczulski

    Published 2021-01-01
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  5. 5
    Age of natural menopause onset in BRCA1/2 carriers – systematic review and meta-analysis

    Age of natural menopause onset in BRCA1/2 carriers – systematic review and meta-analysis by Łukasz Kępczyński, Katarzyna Połatyńska, Anna Nykel, Jordan Sałamunia, Tadeusz Kałużewski, Andrzej Kużawczyk, Agnieszka Gach

    Published 2021-01-01
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  6. 6
    CADASIL spowodowany stereotypową mutacją p.Arg207Cys w genie NOTCH3

    CADASIL spowodowany stereotypową mutacją p.Arg207Cys w genie NOTCH3 by Karol Jastrzębski, Magdalena Obrembska, Łukasz Kępczyński, Katarzyna Turoboś, Agnieszka Sobczyńska-Tomaszewska, Elżbieta Miller, Andrzej Głąbiński

    Published 2018-05-01
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  7. 7
    The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta

    The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta by Kinga Sałacińska, Izabela Michałus, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna‐Sokół, Elżbieta Jakubowska‐Pietkiewicz, Łukasz Kępczyński, Dominik Salachna, Agnieszka Gach

    Published 2022-08-01
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  8. 8
    The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder

    The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder by Agata Kucińska, Wanda Hawuła, Lena Rutkowska, Urszula Wysocka, Łukasz Kępczyński, Małgorzata Piotrowicz, Tatiana Chilarska, Nina Wieczorek-Cichecka, Katarzyna Połatyńska, Łukasz Przysło, Agnieszka Gach

    Published 2024-03-01
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  9. 9
    Correction: Kucińska et al. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. <i>Brain Sci.</i> 2024, <i>14</i>, 273

    Correction: Kucińska et al. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. <i>Brain Sci.</i> 2024, <i>14</i>, 273 by Agata Kucińska, Wanda Hawuła, Lena Rutkowska, Urszula Wysocka, Łukasz Kępczyński, Małgorzata Piotrowicz, Tatiana Chilarska, Nina Wieczorek-Cichecka, Katarzyna Połatyńska, Łukasz Przysło, Agnieszka Gach

    Published 2024-05-01
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  10. 10
    Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland

    Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic D... by Tadeusz Kałużewski, Izabela Kubiak, Michał Bednarek, Jordan Sałamunia, Dorota Kucharska, Łukasz Kępczyński, Marek Stempień, Tobiasz Kubicki, Radzisław Trzciński, Zofia Gordon-Sönmez, Anna Bartosińska-Dyc, Agnieszka Gach, Bogdan Kałużewski

    Published 2023-08-01
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  11. 11
    Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions

    Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regi... by Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Ilona Jaszczuk, Lucjusz Jakubowski, Agnieszka Gach

    Published 2021-07-01
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  12. 12
    NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study

    NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study by Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Nina Wieczorek-Cichecka, Małgorzata Piotrowicz, Tatiana Chilarska, Aleksander Jamsheer, Paweł Matusik, Małgorzata Wilk, Elżbieta Petriczko, Maria Giżewska, Iwona Stecewicz, Mieczysław Walczak, Magda Rybak-Krzyszkowska, Andrzej Lewiński, Agnieszka Gach

    Published 2023-09-01
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