Showing 1 - 13 results of 13 for search 'Rafał Ploski', query time: 0.06s Refine Results
  1. 1
    Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report

    Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case r... by Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski, Mirosław Wielgoś

    Published 2019
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  2. 2
    The role of analysis of EVER2 haplotypes in actinic keratosis

    The role of analysis of EVER2 haplotypes in actinic keratosis by Agnieszka Kalińska-Bienias, Grażyna Kostrzewa, Magdalena Malejczyk, Rafał Płoski, Sławomir Majewski

    Published 2016
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  3. 3
    An unusual case of epidermodysplasia verruciformis with mild cutaneous involvement and extensive genital cancers

    An unusual case of epidermodysplasia verruciformis with mild cutaneous involvement and extensive genital cancers by Joanna M. Sałkowska-Wanat, Leszek Trzeciak, Katarzyna Smolarczyk, Tomasz Pniewski, Rafał Płoski, Sławomir Majewski

    Published 2016
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  4. 4
    Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia-A Case Report

    Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia-A Case Report by Anna Bobrus-Chociej, Agnieszka Pollak, Natalia Kopiczko, Marta Flisiak-Jackiewicz, Rafał Płoski, Dariusz M. Lebensztejn

    Published 2021
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  5. 5
    Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome

    Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome by Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski, Stanislaw Niemczyk

    Published 2020
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  6. 6
    Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

    Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights by Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Maciej Pronicki, Elżbieta Jurkiewicz, Anna Bogdańska, Rafał Płoski, Irena Jankowska

    Published 2022
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  7. 7
    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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  8. 8
    Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

    Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss by Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski

    Published 2017
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  9. 9
    Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report

    Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report by Joanna Zakrzewska-Koperska, Maria Franaszczyk, Zofia Bilińska, Grażyna Truszkowska, Małgorzata Karczmarz, Łukasz Szumowski, Tomasz Zieliński, Rafał Płoski, Maria Bilińska

    Published 2018
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  10. 10
    Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

    Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature by Patryk Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska

    Published 2021
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  11. 11
    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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  12. 12
    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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  13. 13
    Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

    Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience by Patryk Lipiński, Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Agnieszka Pollak, Maria Wypchło, Maria Wypchło, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Joanna Pawłowska, Irena Jankowska

    Published 2020
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