Hasil Pencarian - Maria Jedrzejowska

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  1. 1
    Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

    Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature oleh Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Maria Jędrzejowska, Stanisław Szlufik

    Diterbitkan 2023-09-01
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  2. 2
    Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy

    Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy oleh Agnieszka Stępień, Łucja Mazurkiewicz, Katarzyna Maślanko, Witold Rekowski, Maria Jędrzejowska

    Diterbitkan 2020-11-01
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  3. 3
    Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy

    Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy oleh Agnieszka Stępień, Maria Jędrzejowska, Katarzyna Guzek, Witold Rekowski, Jolanta Stępowska

    Diterbitkan 2019-02-01
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  4. 4
    Newborn screening and gene therapy in SMA: Challenges related to vaccinations

    Newborn screening and gene therapy in SMA: Challenges related to vaccinations oleh Katarzyna Kotulska, Sergiusz Jozwiak, Maria Jedrzejowska, Monika Gos, Magdalena Ogrodnik, Jacek Wysocki, Hanna Czajka, Ernest Kuchar

    Diterbitkan 2022-11-01
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  5. 5
    Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy

    Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy oleh Anna Lusakowska, Maria Jedrzejowska, Anna Kaminska, Katarzyna Janiszewska, Przemysław Grochowski, Janusz Zimowski, Janusz Sierdzinski, Anna Kostera-Pruszczyk

    Diterbitkan 2021-03-01
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  6. 6
    Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

    Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene oleh Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer

    Diterbitkan 2021-06-01
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  7. 7
    The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

    The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes oleh Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel

    Diterbitkan 2020-09-01
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  8. 8
    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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  9. 9
    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 oleh 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

    Diterbitkan 2024-06-01
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