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SaveShare Save Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Wertheim-Tysarowska, Katarzyna; Osipowicz, Katarzyna; Wozniak, Katarzyna; Sawicka, Justyna; Mika, Adrianna; Kutkowska-Kazmierczak, Anna; Niepokoj, Katarzyna; Sobczynska-Tomaszewska, Agnieszka; Wawrzycki, Bartlomiej; Pietrzak, Aldona; Smigiel, Robert; Wojtas, Bartosz; Gielniewski, Bartlomiej; Szabelska-Beresewicz, Alicja; Zyprych-Walczak, Joanna; Rygiel, Agnieszka Magdalena; Domaszewicz, Alicja; Braun-Walicka, Natalia; Grabarczyk, Alicja; Rzonca-Niewczas, Sylwia; Lidia, Ruszkowska; Dawidziuk, Mateusz; Domanski, Dominik; Gambin, Tomasz; Jackiewicz, Monika; Duk, Katarzyna; Dorozko, Barbara; Szczygielski, Orest; Krzesniak, Natalia; Noszczyk, Bartlomiej H.; Obersztyn, Ewa; Wierzba, Jolanta; Barczyk, Artur; Castaneda, Jennifer; Eckersdorf-Mastalerz, Anna; Jakubiuk-Tomaszuk, Anna; Wlasienko, Pawel; Jaszczuk, Ilona; Jezela-Stanek, Aleksandra; Klapecki, Jakub; van Geel, Michel; Kowalewski, Cezary; Bal, Jerzy; Gostynski, Antoni Share Save Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial DiseaseWesol-Kucharska, Dorota; Greczan, Milena; Kaczor, Magdalena; Emczynska-Seliga, Ewa Ehmke Vel; Hajdacka, Malgorzata; Czekuc-Kryskiewicz, Edyta; Piekutowska-Abramczuk, Dorota; Halat-Wolska, Paulina; Ciara, Elzbieta; Jaworski, Maciej; Jezela-Stanek, Aleksandra; Rokicki, Dariusz Share Save Share Save Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLoong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha Share Save IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced InflammationGottschalk, Ilona; Koelsch, Uwe; Wagner, Dimitrios L.; Kath, Jonas; Martini, Stefania; Krueger, Renate; Puel, Anne; Casanova, Jean-Laurent; Jezela-Stanek, Aleksandra; Rossi, Rainer; El Chehadeh, Salima; Van Esch, Hilde; von Bernuth, Horst Share Save Implementation of the web-based calculator estimating odds ratio of severe COVID-19 for unvaccinated individuals in a country with high coronavirus-related death tollKwasniewski, Miroslaw; Korotko, Urszula; Chwialkowska, Karolina; Niemira, Magdalena; Jaroszewicz, Jerzy; Sobala-Szczygiel, Barbara; Puzanowska, Beata; Moniuszko-Malinowska, Anna; Pancewicz, Slawomir; Parfieniuk-Kowerda, Anna; Martonik, Diana; Zarebska-Michaluk, Dorota; Simon, Krzysztof; Pazgan-Simon, Monika; Mozer-Lisewska, Iwona; Bura, Maciej; Adamek, Agnieszka; Tomasiewicz, Krzysztof; Pawlowska, Malgorzata; Piekarska, Anna; Berkan-Kawinska, Aleksandra; Horban, Andrzej; Kowalska, Justyna; Podlasin, Regina; Wasilewski, Piotr; Azzadin, Arsalin; Czuczwar, Miroslaw; Borys, Michal; Piwowarczyk, Pawel; Czaban, Slawomir; Bogocz, Jacek; Ochab, Magdalena; Kruk, Anna; Uszok, Sandra; Bielska, Agnieszka; Szalkowska, Anna; Raczkowska, Justyna; Sokolowska, Gabriela; Chorostowska-Wynimko, Joanna; Jezela-Stanek, Aleksandra; Rozy, Adriana; Lechowicz, Urszula; Polowianiuk, Urszula; Tycinska, Agnieszka; Grubczak, Kamil; Starosz, Aleksandra; Izdebska, Wiktoria; Krzeminski, Tadeusz F.; Bousqet, Jean; Franchini, Genoveffa; Hadlock, Jennifer; Kretowski, Adam; Akdis, Mubeccel; Akdis, Cezmi A.; Sokolowska, Milena; Eljaszewicz, Andrzej; Flisiak, Robert; Moniuszko, Marcin Share Save PIGN encephalopathy: Characterizing the epileptologyBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save Share Save Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 VariantsPaprocka, Justyna; Nowak, Magdalena; Niec, Maria; Janik, Izabela; Rydzanicz, Malgorzata; Robert, Smigiel; Klaniewska, Magdalena; Rutkowska, Karolina; Ploski, Rafal; Jezela-Stanek, Aleksandra Share Save Share Save Share Save Share Save Share Save Share Save Share Save Lessons learned from 40 novel PIGA patients and a review of the literatureBayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R.; Moura de Souza, Carolina Fischinger; Freihuber, Cecile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R.; Korff, Christian M.; Hansen, Johanne Kragh; Larsen, Martin; Layet, Valerie; Lesca, Gaetan; McBride, Kim L.; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H.; Skinner, Steven; Szczaluba, Krzysztol; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A.; Lal, Dennis; Gardella, Elena; Ousager, Lilian Bomme; Bruenger, Tobias; Helbig, Ingo; Krawitz, Peter; Moller, Rikke S. Share Save Share Save Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 casesPokora, Paulina; Jezela-Stanek, Aleksandra; Rozdzynska-Swiatkowska, Agnieszka; Jurkiewicz, Elzbieta; Bogdanska, Anna; Szymanska, Edyta; Rokicki, Dariusz; Ciara, Elzbieta; Rydzanicz, Malgorzata; Stawinski, Piotr; Ploski, Rafal; Tylki-Szymanska, Anna Share Save 
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