학술논문
'학술논문'
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1~20
Academic Journal
Kodytková, Aneta; Amaratunga, Shenali Anne; El-Lababidi, Eva; Čermáková, Ivana; Černá, Jana; Dvořáková, Marcela; Kalvachová, Božena; Koloušková, Stanislava; Kotvalová, Ivana; Magnová, Olga; Neumann, David; Novotná, Dana; Obermannová, Barbora; Pomahačová, Renata; Průhová, Štěpánka; Strnadel, Jiří; Škvor, Jaroslav; Šnajderová, Marta; Šumník, Zdeněk; Zapletalová, Jirina; Zemková, Daniela; Kusalová, Kateřina; Šilar, Jiří; Lebl, Jan
Journal of Pediatric Endocrinology and Metabolism. 38(5):525-532
Academic Journal
Gregorova, Katerina; Plachy, Lukas; Dusatkova, Petra; Maratova, Klara; Martinkova, Julia; Drabova, Jana; Neuman, Vit; Kolouskova, Stanislava; Snajderova, Marta; Obermannova, Barbora; Lebl, Jan; Sumnik, Zdenek; Pruhova, Stepanka
European Journal of Pediatrics. 184(7)
Academic Journal
Amaratunga, Shenali Anne ; Tayeb, Tara Hussein ; Dusatkova, Petra ; Elblova, Lenka ; Drabova, Jana ; Plachy, Lukas ; Pruhova, Stepanka ; Lebl, Jan
In Genetics in Medicine February 2025 27(2)
Academic Journal
Rensing-Ehl, Anne; Neven, Bénédicte; Hadjadj, Jérôme; Hambleton, Sophie; Ronan Leahy, Timothy; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen; Sharapova, Svetlana; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy; Flanagan, Sarah; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen; Allenspach, Eric; Romberg, Neil; Deane, Sean; Prince, Benjamin; Rose, Melissa; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Santos Vilela, Maria; OSullivan, Michael; Pachlopnik Schmid, Jana; Průhová, Štěpánka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Safa; Bartnikas, Lisa; Chang Berger, Amy; Briggs, Tracy; Brothers, Shannon; Bundy, Vanessa; Grunebaum, Eyal; Haapaniemi, Emma; Hämäläinen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal; Gonzalez-Granado, Luis; Guerrerio, Anthony; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica; Levin, Carina; Martelius, Timi; Neth, Olaf; Olbrich, Peter; Palma, Alejandro; Patel, Niraj; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saúl; Russell, Mark; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; Seppänen, Mikko; Torgerson, Troy; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart; Cooper, Megan; Milner, Joshua; Forbes Satter, Lisa; Leiding, Jennifer; Vogel, Tiphanie; Santarlas, Valentine; Mhaskar, Rahul; Smith, Madison; Carisey, Alexandre; Vargas-Hernández, Alexander; Silva-Carmona, Manuel; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew; Desai, Mukesh; Fischer, Ute
Journal of Allergy and Clinical Immunology. 151(4)
Academic Journal
Ariceta, Gema; Benetti, Elisa; Benz, Marcus R.; Bjerre, Anna; Boudailliez, Bernard R.; Bouts, Antonia; Drube, Jens; Gjerstad, Ann Christin; Jankauskiene, Augustina; Jávorszky, Eszter; Jay, Nadine; Kirschstein, Martin; Varda, Nataša Marčun; Niel, Olivier; Nobili, François; Pietrement, Christine; Ruzgiene, Dovile; Schild, Raphael; Staude, Hagen; Tory, Kálmán; Tsimaratos, Michel; Walden, Ulrike; Zappel, Hildegard; Buffin-Meyer, Bénédicte; Richard, Juliette; Guigonis, Vincent; Weber, Stefanie; König, Jens; Heidet, Laurence; Moussaoui, Nabila; Vu, Jeanne-Pierrette; Faguer, Stanislas; Casemayou, Audrey; Prakash, Richa; Baudouin, Véronique; Hogan, Julien; Alexandrou, Demi; Bockenhauer, Detlef; Bacchetta, Justine; Ranchin, Bruno; Pruhova, Stepanka; Zieg, Jakub; Lahoche, Annie; Okorn, Christine; Antal-Kónya, Violetta; Morin, Denis; Becherucci, Francesca; Habbig, Sandra; Liebau, Max C.; Mauras, Mathilde; Nijenhuis, Tom; Llanas, Brigitte; Mekahli, Djalila; Thumfart, Julia; Tönshoff, Burkhard; Massella, Laura; Eckart, Philippe; Cloarec, Sylvie; Cruz, Alejandro; Patzer, Ludwig; Roussey, Gwenaelle; Vrillon, Isabelle; Dunand, Olivier; Bessenay, Lucie; Taroni, Francesca; Zaniew, Marcin; Louillet, Ferielle; Bergmann, Carsten; Schaefer, Franz; van Eerde, Albertien M.; Schanstra, Joost P.; Decramer, Stéphane
In Kidney International Reports August 2024 9(8):2514-2526
Academic Journal
Amaratunga, Shenali A.; Hussein Tayeb, Tara; Muhamad Sediq, Rozhan N.; Hama Salih, Fareda K.; Dusatkova, Petra; Wakeling, Matthew N.; De Franco, Elisa; Pruhova, Stepanka; Lebl, Jan
Diabetologia: Clinical, Translational and Experimental Diabetes and Metabolism. 67(1):113-123
Academic Journal
Plachy, Lukas; Neuman, Vit; Velichova, Katerina; Slavenko, Matvei G.; Santova, Alzbeta; Anne Amaratunga, Shenali; Obermannova, Barbora; Kolouskova, Stanislava; Pruhova, Stepanka; Sumnik, Zdenek; Petruzelkova, Lenka
In Diabetes Research and Clinical Practice March 2024 209
Nowak, Christoph; Lind, Marcus; Sumnik, Zdenek; Pelikanova, Terezie; Chavez, Lia Nattero; Lundberg, Elena; Rica, Itxaso; Martínez-Brocca, Maria A.; Ruiz de Adana, Mari Sol; Wahlberg, Jeanette, 1969; Hanas, Ragnar; Hernandez, Cristina; Clemente León, Maria; Gómez-Gila, Ana; Lozano, Marta Ferrer; Sas, Theo; Pruhova, Stepanka; Dietrich, Fabricia; Puente Marin, Sara; Hannelius, Ulf; Casas, Rosaura; Ludvigsson, Johnny
Journal of Clinical Endocrinology and Metabolism. 107(9):2644-2651
Ludvigsson, Johnny; Sumnik, Zdenek; Pelikanova, Terezie; Nattero Chavez, Lia; Lundberg, Elena; Rica, Itxaso; Martínez-Brocca, Maria A.; Ruiz de Adana, Marisol; Wahlberg, Jeanette, 1969; Katsarou, Anastasia; Hanas, Ragnar; Hernandez, Cristina; Clemente León, Maria; Gómez-Gila, Ana; Lind, Marcus; Lozano, Marta Ferrer; Sas, Theo; Samuelsson, Ulf; Pruhova, Stepanka; Dietrich, Fabricia; Puente Marin, Sara; Nordlund, Anders; Hannelius, Ulf; Casas, Rosaura
Diabetes Care. 44(7):1604-1612
Academic Journal
Kodytkova, Aneta; Dusatkova, Petra; Amaratunga, Shenali Anne; Kolouskova, Stanislava; Obermannova, Barbora; Pomahacova, Renata; Pruhova, Stepanka; Snajderova, Marta; Sumnik, Zdenek; Zapletalova, Jirina; Semjonov, Valerij; Lebl, Jan
Academic Journal
Aleshkevich, Svetlana; Allende, Luis M.; Atkinson, T. Prescott; Atschekzei, Faranaz; Aydemir, Sezin; Aygunes, Utku; Barlogis, Vincent; Baumann, Ulrich; Belko, John; Bezrodnik, Liliana; Biebl, Ariane; Broderick, Lori; Bunin, Nancy J.; Caldirola, Maria Soledad; Castelle, Martin; Celmeli, Fatih; Charbonnier, Louis-Marie; Chatila, Talal A.; Chellapandian, Deepak; Cokugras, Haluk; Conlon, Niall; Cox, Fionnuala; Crickx, Etienne; Dalgic, Buket; ASH Dalm, Virgil; Danielian, Silvia; Dominguez-Pinilla, Nerea; Dujovny, Tal; Ebbo, Mikael; Eken, Ahmet; Esty, Brittany; Fabre, Alexandre; Fischer, Alain; Hannibal, Mark; Huppert, Laura; Ikeda, Marc D.; Jolles, Stephen; Jolly, Kent W.; Jones, Neil; Kanariou, Maria; Karakoc-Aydiner, Elif; Karamantziani, Theoni; Kelaidi, Charikleia; Keogan, Mary; Pac Kisaarslan, Ayşenur; Kiykim, Ayca; Klocperk, Adam; Kotsonis, Kosmas; Kuzmenko, Natalia; Leroy, Sylvie; Lianou, Dimitra; Longhurst, Hilary; Lorenz, Myriam Ricarda; Maffucci, Patrick; Manson, Ania; Marchal, Sarah; Malphettes, Marion; Marega, Lia Furlaneto; Mauracher, Andrea A.; Meesilpavikai, Kornvalee; Miller, Holly; Mombourquette, Joy; Morgan, Noel G.; Mukhina, Anna; Nathalie, Aladjidi; Nelken, Brigitte; Nolan, David; Norlin, Anna-Carin; Oleastro, Matias; Ozcan, Alper; Pasquet, Marlene; Pegler, José Roberto; Picard, Capucine; Polychronopoulou, Sophia; Quartier, Pierre; Quesada, Juan Francisco; Ramakers, Jan; Randall, Katrina L.; Rao, V. Koneti; Remiker, Allison; Resin, Geraldine; Richmond, Peter; Rieux-Laucat, Frederic; Rodina, Yulia; Rohrlich, Pierre; Sachs, Johnathan; Sakovich, Inga; Santarlas, Christopher; Sari, Sinan; Sawicki, Gregory; Schauer, Uwe; Scheffler Mendoza, Selma C.; Schvetz, Oksana; Schmidt, Reinhold Ernst; Schwarz, Klaus; Sediva, Anna; Sinclair, Kyle; Slatter, Mary; Sleasman, John; Stergiou, Katerina; Suratannon, Narissara; Tanita, Kay; Thompson, Grace; Travis, Stephen; Trojan, Timothy; Tsinti, Maria; Unal, Ekrem; Urdinez, Luciano; Vazquez-Gomez, Felisa; Villa, Mariana; Weinrich, Michael; Weiss, Mitchell J.; Wright, Benjamin; Yilmaz, Ebru; Zachova, Radana; Zhang, Yu; Leiding, Jennifer W.; Vogel, Tiphanie P.; Santarlas, Valentine G.J.; Mhaskar, Rahul; Smith, Madison R.; Carisey, Alexandre; Vargas-Hernández, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Bénédicte; Hadjadj, Jérôme; Hambleton, Sophie; Ronan Leahy, Timothy; Cunningham-Rundles, Charlotte; Dutmer, Cullen M.; Sharapova, Svetlana O.; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S.; Flanagan, Sarah E.; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E.; Allenspach, Eric; Romberg, Neil; Deane, Sean G.; Prince, Benjamin T.; Rose, Melissa J.; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Santos Vilela, Maria Marluce Dos; O’Sullivan, Michael; Pachlopnik Schmid, Jana; Průhová, Štěpánka; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Safa; Bartnikas, Lisa M.; Chang Berger, Amy; Briggs, Tracy A.; Brothers, Shannon; Bundy, Vanessa; Chan, Alice Y.; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew C.; Desai, Mukesh M.; Fischer, Ute; Fulcher, David A.; Gallo, Silvanna; Gauthier, Amelie; Gennery, Andrew R.; Gonçalo Marques, José; Gottrand, Frédéric; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hämäläinen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal M.; Gonzalez-Granado, Luis Ignacio; Guerrerio, Anthony L.; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica G.; Levin, Carina; Martelius, Timi; Neth, Olaf; Olbrich, Peter; Palma, Alejandro; Patel, Niraj C.; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saúl Oswaldo; Russell, Mark A.; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; Seppänen, Mikko R.J.; Torgerson, Troy R.; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G.; Cooper, Megan A.; Milner, Joshua D.; Forbes Satter, Lisa R.
In The Journal of Allergy and Clinical Immunology April 2023 151(4):1081-1095
Academic Journal
Neuman, Vit; Pruhova, Stepanka; Kulich, Michal; Kolouskova, Stanislava; Vosahlo, Jan; Romanova, Martina; Petruzelkova, Lenka; Havlik, Jaroslav; Mascellani, Anna; Henke, Svatopluk; Sumnik, Zdenek; Cinek, Ondrej
Diabetologia: Clinical, Translational and Experimental Diabetes and Metabolism. 66(1):241-246
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young
Academic Journal
Dusatkova, Petra; Pavlikova, Marketa; Elblova, Lenka; Larionov, Vladyslav; Vesela, Klara; Kolarova, Katerina; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka
Acta Diabetologica. 59(9):1169-1178
Academic Journal
Santova, Alzbeta; Neuman, Vit; Plachy, Lukas; Amaratunga, Shenali Anne; Pavlikova, Marketa; Romanova, Martina; Konecna, Petra; Neumann, David; Kocourkova, Kamila; Strnadel, Jiri; Pomahacova, Renata; Venhacova, Petra; Skvor, Jaroslav; Obermannova, Barbora; Pruhova, Stepanka; Cinek, Ondrej; Sumnik, Zdenek; CENDA Project Grp
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK
Academic Journal
Kanderova, Veronika; Svobodova, Tamara; Borna, Simon; Fejtkova, Martina; Martinu, Vendula; Paderova, Jana; Svaton, Michael; Kralova, Jarmila; Fronkova, Eva; Klocperk, Adam; Pruhova, Stepanka; Lee-Kirsch, Min Ae; Hornofova, Ludmila; Koblizek, Miroslav; Novak, Petr; Zimmermannova, Olga; Parackova, Zuzana; Sediva, Anna; Kalina, Tomas; Janda, Ales; Kayserova, Jana; Dvorakova, Marcela; Macek, Milan; Pohunek, Petr; Sedlacek, Petr; Poh, Ashleigh; Ernst, Matthias; Brdicka, Tomas; Hrusak, Ondrej; Lebl, Jan
In The Journal of Allergy and Clinical Immunology April 2022 149(4):1464-1472
Academic Journal
Plachy, Lukas; Dusatkova, Petra; Amaratunga, Shenali Anne; Neuman, Vit; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka
Academic Journal
Jellas, Khadija El; Dusatkova, Petra; Haldorsen, Ingfrid S.; Molnes, Janne; Tjora, Erling; Johansson, Bente B.; Fjeld, Karianne; Johansson, Stefan; Pruhova, Stepanka; Groop, Leif; Lohr, J. Matthias; Njolstad, Pal R.; Molven, Anders
Journal of Clinical Endocrinology & Metabolism. April, 2022, Vol. 107 Issue 4, pe1455, 12 p.
Academic Journal
Patouni, Konstantina; Cinek, Ondrej; Pruhova, Stepanka; Elblova, Lenka; Xatzipsalti, Maria; Sertedaki, Amalia; Vazeou, Andriani
In European Journal of Medical Genetics September 2021 64(9)
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study
Academic Journal
Locke, Jonathan M.; Dusatkova, Petra; Colclough, Kevin; Hughes, Alice E.; Dennis, John M.; Shields, Beverley; Flanagan, Sarah E.; Shepherd, Maggie H.; Dempster, Emma L.; Hattersley, Andrew T.; Weedon, Michael N.; Pruhova, Stepanka; Patel, Kashyap A.
Diabetologia: Clinical, Translational and Experimental Diabetes and Metabolism. 65(1):246-249
Academic Journal
Seeman, Tomáš; Weigel, Friederike; Blahova, Kveta; Fencl, Filip; Pruhova, Stepanka; Hermes, Katharina; Klaus, Richard; Lange-Sperandio, Bärbel; Grote, Veit; John-Kroegel, Ulrike
European Journal of Pediatrics. 180(12):3599-3603
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