Hasil Pencarian - Beata S. Lipska-Zietkiewicz

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  1. 1
    Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry

    Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry oleh Agnes Trautmann, Beata S. Lipska-Ziętkiewicz, Franz Schaefer

    Diterbitkan 2018-07-01
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  2. 2
    Dysgerminoma with a Somatic Exon 17 <i>KIT</i> Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

    Dysgerminoma with a Somatic Exon 17 <i>KIT</i> Mutation and SHH Pathway Activation in a Girl with Turner Syndrome oleh Ada Gawrychowska, Ewa Iżycka-Świeszewska, Beata S. Lipska-Ziętkiewicz, Dominika Kuleszo, Joanna Bautembach-Minkowska, Marcin Łosin, Joanna Stefanowicz

    Diterbitkan 2020-12-01
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  3. 3
    Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism

    Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism oleh Malgorzata A. Krawczyk, Malgorzata Styczewska, Dorota Birkholz-Walerzak, Mariola Iliszko, Beata S. Lipska-Zietkiewicz, Wojciech Kosiak, Ninela Irga-Jaworska, Ewa Izycka-Swieszewska, Ewa Bien

    Diterbitkan 2022-06-01
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  4. 4
    Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

    Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome oleh Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite, Judy Savige

    Diterbitkan 2022-02-01
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  5. 5
    Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency

    Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency oleh Anna Hogendorf, Maciej Zieliński, Maria Constantinou, Robert Śmigiel, Jolanta Wierzba, Krystyna Wyka, Anna Wędrychowicz, Anna Jakubiuk-Tomaszuk, Edyta Budzynska, Malgorzata Piotrowicz, Beata S. Lipska-Ziętkiewicz, Ewa Kaczorowska, Agata Cieślikowska, Anna Kutkowska-Kaźmierczak, Jolanta Fijak-Moskal, Monika Kugaudo, Małgorzata Kosińska-Urbańska, Agnieszka Szadkowska, Maciej Borowiec, Maciej Niedźwiecki, Piotr Trzonkowski, Wojciech Młynarski

    Diterbitkan 2021-11-01
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  6. 6
    Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype

    Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype oleh Magdalena Koczkowska, Marcin Jąkalski, Dorota Birkholz-Walerzak, Anna Kostecka, Mariola Iliszko, Magdalena Wójcik, Krzysztof Lewandowski, Katarzyna Milska-Musa, Patrick G. Buckley, Kinga Drężek, Ulana Juhas, Ewa Kuziemska, Agnieszka Maciejewska, Ryszard Pawłowski, Bartosz Wasąg, Natalia Filipowicz, Katarzyna Chojnowska, Urszula Ławrynowicz, Jan P. Dumanski, Beata S. Lipska-Ziętkiewicz, Jakub Mieczkowski, Arkadiusz Piotrowski

    Diterbitkan 2022-12-01
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  7. 7
    Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

    Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. oleh Beata S Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A Kari, Mohamed A Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer, PodoNet Consortium

    Diterbitkan 2017-01-01
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