Search Results - Kocyla‐Karczmarewicz, Beata

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  1. 1
    Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations

    Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations by Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Sobierajewicz, Agata, Kuszel, Lukasz, Zawadzki, Jan, Grenda, Ryszard, Swiader‐Lesniak, Anna, Kocyla‐Karczmarewicz, Beata, Wnuk, Anna, Latos‐Bielenska, Anna, Chrzanowska, Krystyna H.

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  2. 2
    Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

    Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes by Tracewska, Anna M, Kocyła-Karczmarewicz, Beata, Rafalska, Agnieszka, Murawska, Joanna, Jakubaszko-Jabłónska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Ciara, Elżbieta, Lipska-Ziętkiewicz, Beata S, Khan, Muhammad Imran, Cremers, Frans P M, Płoski, Rafał, Chrzanowska, Krystyna H

    Published in Molecular vision
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  3. 3
    Genetic Spectrum of ABCA4 -Associated Retinal Degeneration in Poland

    Genetic Spectrum of ABCA4 -Associated Retinal Degeneration in Poland by Tracewska, Anna M, Kocyła-Karczmarewicz, Beata, Rafalska, Agnieszka, Murawska, Joanna, Jakubaszko-Jablonska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Ciara, Elżbieta, Khan, Muhammad Imran, Henkes, Arjen, Hoischen, Alexander, Gilissen, Christian, van de Vorst, Maartje, Cremers, Frans P M, Płoski, Rafał, Chrzanowska, Krystyna H

    Published in Genes
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  4. 4
    Severe neonatal spondylometaphyseal dysplasia in two siblings

    Severe neonatal spondylometaphyseal dysplasia in two siblings by Czarny-Ratajczak, Malwina, Chrzanowska, Krystyna, Bieganski, Tadeusz, Sulko, Jerzy, Baranska, Dobromila, Kocyla-Karczmarewicz, Beata, Kuszel, Lukasz, Jakubowski, Lucjusz, Niedzielski, Kryspin, Kozlowski, Kazimierz

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  5. 5
    Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats’ Disease

    Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats’ Disease by Hautz, Wojciech, Kocyła-Karczmarewicz, Beata, Gołębiewska, Joanna

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  6. 6
    No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

    No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction by Piekutowska-Abramczuk, Dorota, Kocyła-Karczmarewicz, Beata, Małkowska, Maja, Łuczak, Sylwia, Iwanicka-Pronicka, Katarzyna, Siegmund, Stephanie, Yang, Hua, Wen, Quan, Hoang, Quan V., Silverman, Ronald H., Kowalski, Paweł, Szczypińska, Olga, Czornak, Kamila, Zimowski, Janusz, Płoski, Rafał, Pilch, Jacek, Ciara, Elżbieta, Zaremba, Jacek, Krajewska-Walasek, Małgorzata, Schon, Eric A., Pronicka, Ewa

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  7. 7
    Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats' Disease

    Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats' Disease by Hautz, Wojciech, Golebiewska, Joanna, Kocyla-Karczmarewicz, Beata

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  8. 8
    Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats' Disease

    Optical Coherence Tomography and Optical Coherence Tomography Angiography in Monitoring Coats' Disease by Hautz, Wojciech, Golebiewska, Joanna, Kocyla-Karczmarewicz, Beata

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