학술논문
'학술논문'
에서 검색결과 644건 | 목록
1~20
Academic Journal
Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie BTM; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica LT; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd AA; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus FM; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein HG; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou AM; Stegenga, Merel T; Stoupa, Athanasia
Nature Communications. 16(1)
Academic Journal
Maniatis, Aristides K.; Carakushansky, Mauri; Galcheva, Sonya; Prakasam, Gnanagurudasan; Fox, Larry A.; Dankovcikova, Adriana; Loftus, Jane; Palladino, Andrew A.; Resa, Maria de los Angeles; Taylor, Carrie Turich; Dattani, Mehul T.; Lebl, Jan
Therapeutic Advances in Endocrinology & Metabolism; 11/2/2024, p1-9, 9p
Academic Journal
Bellos, Evangelos; Santillo, Dilys; Vantourout, Pierre; Jackson, Heather; Duret, Amedine; Hearn, Henry; Seeleuthner, Yoann; Talouarn, Estelle; Hodeib, Stephanie; Patel, Harsita; Powell, Oliver; Yeoh, Sophya; Mustafa, Sobia; Habgood-Coote, Dominic; Nichols, Samuel; Estramiana Elorrieta, Leire; DSouza, Giselle; Wright, Victoria; Estrada-Rivadeneyra, Diego; Tremoulet, Adriana; Dummer, Kirsten; Netea, Stejara; Condino-Neto, Antonio; Lau, Yu; Núñez Cuadros, Esmeralda; Toubiana, Julie; Holanda Pena, Marisol; Rieux-Laucat, Frédéric; Luyt, Charles-Edouard; Haerynck, Filomeen; Mège, Jean; Chakravorty, Samya; Haddad, Elie; Morin, Marie-Paule; Metin Akcan, Özge; Keles, Sevgi; Emiroglu, Melike; Alkan, Gulsum; Tüter Öz, Sadiye; Elmas Bozdemir, Sefika; Morelle, Guillaume; Volokha, Alla; Kendir-Demirkol, Yasemin; Sözeri, Betul; Coskuner, Taner; Yahsi, Aysun; Gulhan, Belgin; Kanik-Yuksek, Saliha; Bayhan, Gulsum; Ozkaya-Parlakay, Aslinur; Yesilbas, Osman; Hatipoglu, Nevin; Ozcelik, Tayfun; Belot, Alexandre; Chopin, Emilie; Barlogis, Vincent; Sevketoglu, Esra; Menentoglu, Emin; Gayretli Aydin, Zeynep; Bloomfield, Marketa; AlKhater, Suzan; Cyrus, Cyril; Stepanovskiy, Yuriy; Bondarenko, Anastasiia; Öz, Fatma; Polat, Meltem; Fremuth, Jiří; Lebl, Jan; Geraldo, Amyrath; Jouanguy, Emmanuelle; Carter, Michael; Wellman, Paul; Peters, Mark; Pérez de Diego, Rebeca; Edwards, Lindsey; Chiu, Christopher; Noursadeghi, Mahdad; Bolze, Alexandre; Shimizu, Chisato; Kaforou, Myrsini; Hamilton, Melissa; Herberg, Jethro; Schmitt, Erica; Rodriguez-Palmero, Agusti; Pujol, Aurora; Kim, Jihoon; Cobat, Aurélie; Abel, Laurent; Zhang, Shen-Ying; Casanova, Jean-Laurent; Kuijpers, Taco; Burns, Jane; Levin, Michael; Hayday, Adrian; Sancho-Shimizu, Vanessa
Journal of Experimental Medicine. 221(12)
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
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
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
David, Jan; Stara, Veronika; Hradsky, Ondrej; Tuckova, Jana; Slaba, Katerina; Jabandziev, Petr; Sasek, Lumir; Huml, Michal; Zidkova, Iveta; Pavlicek, Jan; Palatova, Alzbeta; Klaskova, Eva; Banszka, Karina; Terifajova, Eva; Vyhnanek, Radim; Bloomfield, Marketa; Fingerhutova, Sarka; Dolezalova, Pavla; Prochazkova, Lucie; Chramostova, Gabriela; Fencl, Filip; Lebl, Jan
European Journal of Pediatrics. 181(10):3663-3672
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
Plachy, Lukas; Dusatkova, Petra; Amaratunga, Shenali Anne; Neuman, Vit; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka
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
Bellos, Evangelos; Santillo, Dilys; Vantourout, Pierre; Jackson, Heather R.; Duret, Amedine; Hearn, Henry; Seeleuthner, Yoann; Talouarn, Estelle; Hodeib, Stephanie; Patel, Harsita; Powell, Oliver; Yeoh, Sophya; Mustafa, Sobia; Habgood-Coote, Dominic; Nichols, Samuel; Elorrieta, Leire Estramiana; D'Souza, Giselle; Wright, Victoria J.; Estrada-Rivadeneyra, Diego; Tremoulet, Adriana H.; Dummer, Kirsten B.; Netea, Stejara A.; Condino-Neto, Antonio; Lau, Yu Lung; Nunez Cuadros, Esmeralda; Toubiana, Julie; Holanda Pena, Marisol; Rieux-Laucat, Frederic; Luyt, Charles-Edouard; Haerynck, Filomeen; Mege, Jean Louis; Chakravorty, Samya; Haddad, Elie; Morin, Marie-Paule; Akcan, Ozge Metin; Keles, Sevgi; Emiroglu, Melike; Alkan, Gulsum; Oz, Sadiye Kubra Tuter; Bozdemir, Sefika Elmas; Morelle, Guillaume; Volokha, Alla; Kendir-Demirkol, Yasemin; Sozeri, Betul; Coskuner, Taner; Yahsi, Aysun; Gulhan, Belgin; Kanik-Yuksek, Saliha; Bayhan, Gulsum Iclal; Ozkaya-Parlakay, Aslinur; Yesilbas, Osman; Hatipoglu, Nevin; Ozcelik, Tayfun; Belot, Alexandre; Chopin, Emilie; Barlogis, Vincent; Sevketoglu, Esra; Menentoglu, Emin; Aydin, Zeynep Gokce Gayretli; Bloomfield, Marketa; AlKhater, Suzan A.; Cyrus, Cyril; Stepanovskiy, Yuriy; Bondarenko, Anastasiia; Oz, Fatma Nur; Polat, Meltem; Fremuth, Jiri; Lebl, Jan; Geraldo, Amyrath; Jouanguy, Emmanuelle; Carter, Michael J.; Wellman, Paul; Peters, Mark; Perez de Diego, Rebeca; Edwards, Lindsey Ann; Chiu, Christopher; Noursadeghi, Mahdad; Bolze, Alexandre; Shimizu, Chisato; Kaforou, Myrsini; Hamilton, Melissa Shea; Herberg, Jethro A.; Schmitt, Erica G.; Rodriguez-Palmero, Agusti; Pujol, Aurora; Kim, Jihoon; Cobat, Aurelie; Abel, Laurent; Zhang, Shen-Ying; Casanova, Jean-Laurent; Kuijpers, Taco W.; Burns, Jane C.; Levin, Michael; Hayday, Adrian C.; Sancho-Shimizu, Vanessa; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS
Academic Journal
Edouard, Thomas; Zenker, Martin; Östman-Smith, Ingegerd; Ortega Castelló, Eduardo; Wolf, Cordula M.; Burkitt-Wright, Emma; Verloes, Alain; García-Miñaúr, Sixto; Tartaglia, Marco; Shaikh, Guftar; Lebl, Jan
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
García-Miñaúr, Sixto; Burkitt-Wright, Emma; Verloes, Alain; Shaikh, Guftar; Lebl, Jan; Östman-Smith, Ingegerd; Wolf, Cordula M.; Ortega Castelló, Eduardo; Tartaglia, Marco; Zenker, Martin; Edouard, Thomas
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
Wolf, Cordula M.; Zenker, Martin; Burkitt-Wright, Emma; Edouard, Thomas; García-Miñaúr, Sixto; Lebl, Jan; Shaikh, Guftar; Tartaglia, Marco; Verloes, Alain; Östman-Smith, Ingegerd
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
Groeneweg, Stefan, MD; van Geest, Ferdy S, MD; Abacı, Ayhan, Prof; Alcantud, Alberto, MD; Ambegaonkar, Gautam P, MRCPCH; Armour, Christine M, MD; Bakhtiani, Priyanka, MD; Barca, Diana, MD; Bertini, Enrico S, Prof; van Beynum, Ingrid M, MD; Brunetti-Pierri, Nicola, Prof; Bugiani, Marianna, MD; Cappa, Marco, MD; Cappuccio, Gerarda, MD; Castellotti, Barbara, MD; Castiglioni, Claudia, MD; Chatterjee, Krishna, Prof; de Coo, Irenaeus F M, MD; Coutant, Régis, Prof; Craiu, Dana, Prof; Crock, Patricia, DMed; DeGoede, Christian, FRCPCH; Demir, Korcan, MD; Dica, Alice, MD; Dimitri, Paul, Prof; Dolcetta-Capuzzo, Anna, MD; Dremmen, Marjolein H G, MD; Dubey, Rachana, DM; Enderli, Anina, MD; Fairchild, Jan, FRACP; Gallichan, Jonathan, MBChB; George, Belinda, DM; Gevers, Evelien F, PhD; Hackenberg, Annette, MD; Halász, Zita, MD; Heinrich, Bianka, Med Pract; Huynh, Tony, PhD; Kłosowska, Anna, MD; van der Knaap, Marjo S, Prof; van der Knoop, Marieke M, MSc; Konrad, Daniel, Prof; Koolen, David A, MD; Krude, Heiko, Prof; Lawson-Yuen, Amy, MD; Lebl, Jan, Prof; Linder-Lucht, Michaela, MD; Lorea, Cláudia F, MD; Lourenço, Charles M, MD; Lunsing, Roelineke J, MD; Lyons, Greta, RGN; Malikova, Jana, MD; Mancilla, Edna E, MD; McGowan, Anne, MD; Mericq, Veronica, Prof; Lora, Felipe M, MD; Moran, Carla, MB; Müller, Katalin E, MD; Oliver-Petit, Isabelle, MD; Paone, Laura, MD; Paul, Praveen G, MD; Polak, Michel, Prof; Porta, Francesco, MD; Poswar, Fabiano O, MD; Reinauer, Christina, MD; Rozenkova, Klara, MD; Menevse, Tuba S, MD; Simm, Peter, MBBS; Simon, Anna, MD; Singh, Yogen, MD; Spada, Marco, MD; van der Spek, Jet, MD; Stals, Milou A M, MD; Stoupa, Athanasia, MD; Subramanian, Gopinath M, FRACP; Tonduti, Davide, MD; Turan, Serap, Prof; den Uil, Corstiaan A, MD; Vanderniet, Joel, MBBS; van der Walt, Adri, MD; Wémeau, Jean-Louis, Prof; Wierzba, Jolante, MD; de Wit, Marie-Claire Y, MD; Wolf, Nicole I, MD; Wurm, Michael, MD; Zibordi, Federica, MD; Zung, Amnon, Prof; Zwaveling-Soonawala, Nitash, MD; Visser, W Edward, MD
The Lancet Diabetes & Endocrinology. 8(7):594-605
Academic Journal
Minerva Pediatrics; Apr2025, Vol. 77 Issue 2, p168-177, 10p
Academic Journal
Plachy, Lukas; Dusatkova, Petra; Maratova, Klara; Amaratunga, Shenali Anne; Zemkova, Dana; Neuman, Vit; Kolouskova, Stanislava; Obermannova, Barbora; Snajderova, Marta; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka
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