Canlyniadau Chwilio - Jezela-Stanek, Aleksandra

Dear Readers and Authors gan Jezela-Stanek, Aleksandra

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Interstitial Lung Disease in Rare Congenital Syndromes gan Jezela-Stanek, Aleksandra

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Editorial gan Jezela-Stanek, Aleksandra

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

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

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

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Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series gan Stepien, Karolina M., Ciara, Elżbieta, Jezela-Stanek, Aleksandra

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

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Nonimmune Hydrops Fetalis—Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review gan Kosinski, Przemyslaw, Krajewski, Pawel, Wielgos, Miroslaw, Jezela-Stanek, Aleksandra

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

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

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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 gan Jezela-Stanek, Aleksandra, Kleinotiene, Grazina, Chwialkowska, Karolina, Tylki-Szymańska, Anna

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

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

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

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Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe gan Jezela-Stanek, Aleksandra, Różdżyńska-Świątkowska, Agnieszka, Kulpanovich, Anna, Ciara, Elżbieta, Marucha, Jolanta, Tylki-Szymańska, Anna

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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 gan Mitusińska, Karolina, Góra, Artur, Bogdańska, Anna, Rożdżyńska-Świątkowska, Agnieszka, Tylki-Szymańska, Anna, Jezela-Stanek, Aleksandra

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

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

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Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counsel... gan Jezela-Stanek, Aleksandra, Pokora, Paulina, Młynek, Marlena, Smyk, Marta, Ziemkiewicz, Kamila, Różdżyńska-Świątkowska, Agnieszka, Tylki-Szymańska, Anna

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