Showing 1 - 7 results of 7 for search 'Robert Śmigiel', query time: 0.04s Refine Results
  1. 1
    The Harlequin phenomenon after thoracoscopic repair of esophageal atresia and tracheoesophageal fistula: Is there any coincidence?

    The Harlequin phenomenon after thoracoscopic repair of esophageal atresia and tracheoesophageal fistula: Is there any coincidence? by Katarzyna A. Maścianica, Robert Śmigiel, Dariusz Patkowski

    Published 2015
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  2. 2
    Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report

    Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report by Izabela Cendal, Agnieszka Szafrańska, Tomasz Fuchs, Dariusz Patkowski, Robert Smigiel, Barbara Królak-Olejnik

    Published 2021
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  3. 3
    Lipoid proteinosis: different clinical features in two siblings

    Lipoid proteinosis: different clinical features in two siblings by Katarzyna Łuczak, Elżbieta Wojtowicz-Prus, Robert Śmigiel, Katarzyna Wertheim-Tysarowska, Sylwia Radomska, Jacek Podolski, Jolanta Węgłowska

    Published 2019
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  4. 4
    CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts

    CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts by Magdalena Kłaniewska, Malgorzata Rydzanicz, Joanna Kosińska, Mateusz Biela, Anna Walczak, Elżbieta Szmida, Anna Rozensztrauch, Rafał Płoski, Robert Śmigiel

    Published 2021
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  5. 5
    Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders

    Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders by Agnieszka Pawelak, Artur Polczyk, Ewelina Wolańska, Magdalena Kłaniewska, Mateusz Biela, Aleksander Basiak, Maria Franaszczyk, Małgorzata Rydzanicz, Rafał Płoski, Robert Śmigiel

    Published 2024
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  6. 6
    Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

    Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report by Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski

    Published 2021
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  7. 7
    Establishment of a condition-specific quality-of-life questionnaire for children born with esophageal atresia aged 2-7 across 14 countries

    Establishment of a condition-specific quality-of-life questionnaire for children born with esophageal atresia aged 2-7 across 14 countries by The International EA-QOL Group, Michaela Dellenmark Blom, Stefanie Witt, Benjamin Zendejas, Ivana Sabolić, Juan Domingo Porras-Hernandez, Natalie Durkin, Simon Eaton, Kjersti Birketvedt, Alba Sánchez Galán, Katalin Eszter Müller, Anna Rozensztrauch, Tutku Soyer, Siqi Li, Anastasia Fourtaka, Corne de Vos, Graham Slater, Ana Špoljarić, John Bennett, Ragnhild Emblem, Zita Andrásdi, Robert Smigiel, Dariusz Patkowski, Çiğdem Ulukaya Durakbaşa, Marina Stilinović, Frederic Gottrand, Dora Škrljak Šoša, Tomislav Luetić, Sylwester Gerus, Shen Yang, Yong Zhao, Yichao Gu, Shuangshuang Li, Diego Rodriguez-Alvirde, Orsolya Kadenczki, Miram Pasini, Vuokko Wallace, Anke Widenmann, Feliciana Milagres Sikwete, Jinshi Huang, Leopoldo Martínez Martínez, Kate Abrahamsson, Shawn Izadi, Benno M Ure, Daniel Sidler, Julia H Quitmann, Jens Dingemann

    Published 2023
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