Showing 1 - 7 results of 7 for search 'Maciej R. Krawczyński', query time: 0.04s Refine Results
  1. 1
    <i>CDHR1</i>-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report

    <i>CDHR1</i>-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report by Małgorzata Sobolewska, Marta Świerczyńska, Mariola Dorecka, Dorota Wyględowska-Promieńska, Maciej R. Krawczyński, Ewa Mrukwa-Kominek

    Published 2023-02-01
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  2. 2
    Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa

    Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa by Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R. Krawczyński

    Published 2023-02-01
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  3. 3
    X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

    X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes by Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela

    Published 2016-01-01
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  4. 4
    Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

    Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis by Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Maciej R. Krawczyński, Machteld M. Oud, Machteld M. Oud

    Published 2022-07-01
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  5. 5
    Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland

    Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland by Ewa Matczyńska, Marta Beć-Gajowniczek, Larysa Sivitskaya, Elżbieta Gregorczyk, Przemysław Łyszkiewicz, Robert Szymańczak, Maria Jędrzejowska, Edward Wylęgała, Maciej R. Krawczyński, Sławomir Teper, Anna Boguszewska-Chachulska

    Published 2024-06-01
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  6. 6
    Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

    Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development by Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, Marek Niedziela

    Published 2018-12-01
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  7. 7
    Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants

    Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants by Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Machteld M. Oud, Witold Szaflarski

    Published 2023-12-01
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