Hasil Pencarian - Robert Smigiel

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  1. 1
    Clinical presentation of Rett syndrome in relation to quality of life and family functioning

    Clinical presentation of Rett syndrome in relation to quality of life and family functioning oleh Anna Rozensztrauch, Agnieszka Sebzda, Robert Śmigiel

    Diterbitkan 2021-04-01
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  2. 2
    CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

    CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy oleh Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel

    Diterbitkan 2020-02-01
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  3. 3
    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? oleh Katarzyna A. Maścianica, Robert Śmigiel, Dariusz Patkowski

    Diterbitkan 2015-11-01
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  4. 4
    Health-related quality of life and family functioning of primary caregivers of children with down syndrome

    Health-related quality of life and family functioning of primary caregivers of children with down syndrome oleh Anna Rozensztrauch, Karolina Wieczorek, Iwona Twardak, Robert Śmigiel

    Diterbitkan 2023-12-01
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  5. 5
    Translation and psychometric testing of the Polish version of the Neonatal Extent of Work Rationing Instrument (NEWRI)

    Translation and psychometric testing of the Polish version of the Neonatal Extent of Work Rationing Instrument (NEWRI) oleh Anna Rozensztrauch, Izabella Uchmanowicz, Barbara Suchowska, Robert Śmigiel

    Diterbitkan 2021-03-01
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  6. 6
    <i>COQ8A</i>-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

    <i>COQ8A</i>-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency oleh Justyna Paprocka, Magdalena Nowak, Piotr Chuchra, Robert Śmigiel

    Diterbitkan 2022-10-01
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  7. 7
    Dysplazja czołowo-przynasadowa (zespół Gorlina i Cohena) jako przykład rzadkiej choroby układu kostnego sprzężonej z chromosomem X – opis kliniczny dwóch przypadków o późnym rozpoznaniu

    Dysplazja czołowo-przynasadowa (zespół Gorlina i Cohena) jako przykład rzadkiej choroby układu kostnego sprzężonej z chromosomem X – opis kliniczny dwóch przypadków o późnym rozpoz... oleh Robert Śmigiel, Jacek Pilch, Magdalena Millan, Maria M. Sąsiadek

    Diterbitkan 2013-12-01
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  8. 8
    Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by <i>ABCA3</i> Mutation

    Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by <i>ABCA3</i> Mutation oleh Justyna Rogulska, Katarzyna Wróblewska-Seniuk, Robert Śmigiel, Jarosław Szydłowski, Tomasz Szczapa

    Diterbitkan 2022-04-01
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  9. 9
    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 oleh Izabela Cendal, Agnieszka Szafrańska, Tomasz Fuchs, Dariusz Patkowski, Robert Smigiel, Barbara Królak-Olejnik

    Diterbitkan 2021-12-01
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  10. 10
    Lipoid proteinosis: different clinical features in two siblings

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

    Diterbitkan 2019-12-01
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  11. 11
    Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

    Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene oleh Ryszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosinska, Piotr Stawinski, Maria Malgorzata Sasiadek, Rafal Ploski

    Diterbitkan 2020-10-01
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  12. 12
    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 oleh Magdalena Kłaniewska, Malgorzata Rydzanicz, Joanna Kosińska, Mateusz Biela, Anna Walczak, Elżbieta Szmida, Anna Rozensztrauch, Rafał Płoski, Robert Śmigiel

    Diterbitkan 2021-07-01
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  13. 13
    Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

    Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review oleh Justyna Paprocka, Michał Hutny, Jagoda Hofman, Agnieszka Tokarska, Magdalena Kłaniewska, Krzysztof Szczałuba, Agnieszka Stembalska, Aleksandra Jezela-Stanek, Robert Śmigiel

    Diterbitkan 2022-01-01
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  14. 14
    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 oleh Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski

    Diterbitkan 2021-12-01
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  15. 15
    Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review

    Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review oleh Snir Boniel, Maria Krajewska, Beata Pyrżak, Monika Paluchowska, Anna Majcher, Magdalena Zarlenga, Katarzyna Krenke, Robert Śmigiel, Anetta Jeziorek, Krystyna Szymańska, Krzysztof Szczałuba

    Diterbitkan 2024-07-01
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  16. 16
    Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene

    Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene oleh Magdalena Klaniewska, Maria Jedrzejowska, Malgorzata Rydzanicz, Justyna Paprocka, Mateusz Biela, Ewelina Wolanska, Agnieszka Pollak, Emilia Debek, Maria Sasiadek, Rafal Ploski, Monika Gos, Robert Smigiel

    Diterbitkan 2021-04-01
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  17. 17
    Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study

    Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study oleh Agata Suleja, Katarzyna Milska-Musa, Łukasz Przysło, Marzena Bednarczyk, Marcin Kostecki, Dominik Cysewski, Paweł Matryba, Anna Rozensztrauch, Michał Dwornik, Marcin Opacki, Robert Śmigiel, Kacper Łukasiewicz

    Diterbitkan 2024-08-01
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  18. 18
    FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

    FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood oleh Magdalena Badura‐Stronka, Robert Śmigiel, Karolina Rutkowska, Krystyna Szymańska, Adam Sebastian Hirschfeld, Michał Monkiewicz, Joanna Kosińska, Ewelina Wolańska, Małgorzata Rydzanicz, Anna Latos‐Bieleńska, Rafał Płoski

    Diterbitkan 2022-04-01
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  19. 19
    Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

    Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review oleh Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel

    Diterbitkan 2021-09-01
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  20. 20
    Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

    Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD) oleh Izabela M. Krzyzewska, Peter Lauffer, Adri N. Mul, Liselot van der Laan, Andrew Y. F. Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A. Chomczyk, Robert Smigiel, Marcel M. A. M. Mannens, Peter Henneman

    Diterbitkan 2023-04-01
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