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

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

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

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

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

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

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

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

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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

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

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

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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

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

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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

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

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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

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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant by Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek

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Alpha-1 Antitrypsin Z Variant (AAT PI*Z) as a Risk Factor for Intrahepatic Cholestasis of Pregnancy by Przemyslaw Kosinski, Przemyslaw Kosinski, Malgorzata Kedzia, Adrianna Mostowska, Pawel Gutaj, Pawel Gutaj, Michal Lipa, Michal Lipa, Ewa Wender-Ozegowska, Adriana Rozy, Joanna Chorostowska-Wynimko, Miroslaw Wielgos, Aleksandra Jezela-Stanek

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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findin... by Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, Justyna Sawicka, Adrianna Mika, Anna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Agnieszka Sobczyńska-Tomaszewska, Bartłomiej Wawrzycki, Aldona Pietrzak, Robert Śmigiel, Bartosz Wojtaś, Bartłomiej Gielniewski, Alicja Szabelska-Beresewicz, Joanna Zyprych-Walczak, Agnieszka Magdalena Rygiel, Alicja Domaszewicz, Natalia Braun-Walicka, Alicja Grabarczyk, Sylwia Rzońca-Niewczas, Ruszkowska Lidia, Mateusz Dawidziuk, Dominik Domański, Tomasz Gambin, Monika Jackiewicz, Katarzyna Duk, Barbara Dorożko, Orest Szczygielski, Natalia Krześniak, Bartłomiej H Noszczyk, Ewa Obersztyn, Jolanta Wierzba, Artur Barczyk, Jennifer Castaneda, Anna Eckersdorf-Mastalerz, Anna Jakubiuk-Tomaszuk, Paweł Własienko, Ilona Jaszczuk, Aleksandra Jezela-Stanek, Jakub Klapecki, Michel van Geel, Cezary Kowalewski, Jerzy Bal, Antoni Gostyński

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

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