Showing 1 - 20 results of 24 for search 'Aleksandra Jezela‐Stanek', query time: 0.05s
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Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases by Aleksandra Jezela-Stanek, Grazina Kleinotiene, Karolina Chwialkowska, Anna Tylki-Szymańska
Published 2021-10-01
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Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG by Karolina Mitusińska, Artur Góra, Anna Bogdańska, Agnieszka Rożdżyńska-Świątkowska, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Published 2022-03-01
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The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes by Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Published 2020-09-01
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Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme by Aleksandra Jezela-Stanek, Lidia Suchoń, Agnieszka Sobczyńska-Tomaszewska, Kamila Czerska, Katarzyna Kuśmierska, Joanna Taybert, Mariusz Ołtarzewski, Jolanta Sykut-Cegielska
Published 2022-04-01
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Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome by 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
Published 2022-09-01
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Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria by Edyta Szymańska, Aleksandra Jezela-Stanek, Anna Bogdańska, Dariusz Rokicki, Ewa Ehmke vel Emczyńska-Seliga, Magdalena Pajdowska, Elżbieta Ciara, Anna Tylki-Szymańska
Published 2020-09-01
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