Hasil Pencarian - Aleksandra Jezela‐Stanek

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  1. 1
    Noninvasive prenatal testing of aneuploidies: where are we now?

    Noninvasive prenatal testing of aneuploidies: where are we now? oleh Aleksandra Jezela-Stanek, Małgorzata Krajewska-Walasek

    Diterbitkan 2014-09-01
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  2. 2
    Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review

    Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review oleh Przemyslaw Kosinski, Milena Greczan, Aleksandra Jezela-Stanek

    Diterbitkan 2021-06-01
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  3. 3
    Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

    Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment oleh Dorota Wesół-Kucharska, Dariusz Rokicki, Aleksandra Jezela-Stanek

    Diterbitkan 2021-06-01
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  4. 4
    Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

    Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series oleh Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M. Stepien

    Diterbitkan 2020-06-01
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  5. 5
    Editorial: Inherited Protein Glycosylation Defects in Humans

    Editorial: Inherited Protein Glycosylation Defects in Humans oleh Aleksandra Jezela-Stanek, Karolina M. Stepien, Anna Tylki-Szymanska

    Diterbitkan 2022-03-01
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  6. 6
    Congenital Disorders of Glycosylation from a Neurological Perspective

    Congenital Disorders of Glycosylation from a Neurological Perspective oleh Justyna Paprocka, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska, Stephanie Grunewald

    Diterbitkan 2021-01-01
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  7. 7
    Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

    Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein oleh Urszula Lechowicz, Stefan Rudzinski, Aleksandra Jezela-Stanek, Sabina Janciauskiene, Joanna Chorostowska-Wynimko

    Diterbitkan 2020-12-01
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  8. 8
    Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

    Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review oleh Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek

    Diterbitkan 2021-08-01
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  9. 9
    Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis

    Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis oleh Milena Greczan, Dariusz Rokicki, Dorota Wesół-Kucharska, Magdalena Kaczor, Agata Rawiak, Aleksandra Jezela-Stanek

    Diterbitkan 2022-12-01
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  10. 10
    Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene

    Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene oleh Aleksandra Jezela-Stanek, Witold Blaz, Artur Gora, Malgorzata Bochenska, Katarzyna Kusmierska, Jolanta Sykut-Cegielska

    Diterbitkan 2020-10-01
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  11. 11
    Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG

    Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG oleh Karolina Mitusińska, Artur Góra, Anna Bogdańska, Agnieszka Rożdżyńska-Świątkowska, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek

    Diterbitkan 2022-03-01
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  12. 12
    The genetic basis of classical galactosaemia in Polish patients

    The genetic basis of classical galactosaemia in Polish patients oleh Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska

    Diterbitkan 2021-05-01
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  13. 13
    Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

    Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up oleh Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska

    Diterbitkan 2021-01-01
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  14. 14
    How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review

    How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review oleh Miroslaw Wielgos, Przemyslaw Kosinski, Piotr Jedrzejak, Małgorzata Krajewska-Walasek, Magdalena Bartnik-Glaska, Beata Nowakowska, Aleksandra Jezela-Stanek

    Diterbitkan 2021-11-01
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  15. 15
    Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

    Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication oleh Marzena Kucharczyk, Aleksandra Jezela-Stanek, Dorota Gieruszczak-Bialek, Monika Kugaudo, Agata Cieslikowska, Magdalena Pelc, Malgorzata Krajewska-Walasek

    Diterbitkan 2015-06-01
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  16. 16
    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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  17. 17
    The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant

    The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant oleh Justyna Paprocka, Aleksandra Jezela-Stanek, Łukasz Boguszewicz, Maria Sokół, Patryk Lipiński, Ewa Jamroz, Ewa Emich-Widera, Anna Tylki-Szymańska

    Diterbitkan 2021-03-01
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  18. 18
    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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  19. 19
    Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

    Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome oleh Jagoda Hofman, Michal Hutny, Karolina Chwialkowska, Karolina Chwialkowska, Urszula Korotko, Urszula Korotko, Karolina Loranc, Anna Kruk, Urszula Lechowicz, Urszula Lechowicz, Adriana Rozy, Adriana Rozy, Pawel Gajdanowicz, Pawel Gajdanowicz, Miroslaw Kwasniewski, Miroslaw Kwasniewski, Malgorzata Krajewska-Walasek, Justyna Paprocka, Aleksandra Jezela-Stanek, Aleksandra Jezela-Stanek

    Diterbitkan 2022-09-01
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  20. 20
    Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

    Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants oleh Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek

    Diterbitkan 2021-08-01
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