KONRAD, DANIEL
KONRAD, DANIEL
Contemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy: a multi-national registry study
2026-01-01 Lim, David B N; Bryce, Jillian; Ali, Salma R; Tseretopoulou, Xanthippi; Birkebaek, Niels H; Hannema, Sabine E; Campos-Martorell, Ariadna; Clemente, Maria; Neumann, Uta; Flück, Christa E; Metzger, Sara; Krone, Ruth E; German, Alina; Baronio, Federico; Barat, Pascal; Delagrange, Marine; Vautier, Vanessa; Vieites, Ana; Rey, Rodolfo; Elsedfy, Heba; Atapattu, Navoda; Seneviratne, Sumudu N; Cools, Martine; Guran, Tulay; Yavas Abali, Zehra; Fu, Antony; Janus, Dominika; Shenoy, Savitha; Wasniewska, Malgorzata; Coco, Roberto; Russo, Gianni; Stancampiano, Marianna Rita; Bonfig, Walter; Salerno, Mariacarolina; Claahsen-van der Grinten, Hedi L; Adriaansen, Bas P H; Mozzato, Chiara; Guazzarotti, Laura; Niedziela, Marek; Banaszak-Ziemska, Magdalena; van Eck, Judith; Bachega, Tania; Miranda, Mirela C; Marginean, Otilia; Munarin, Jessica; De Sanctis, Luisa; Probst-Scheidegger, Ursina; Lenherr-Taube, Nina; Konrad, Daniel; O'Connell, Michele; Gawlik-Starzyk, Aneta; Sandberg, David E; Shnorhavorian, Margarett; Krone, Nils; Ahmed, S Faisal; Davies, Justin H
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
2025-01-01 Groeneweg, Stefan; van Geest, Ferdy S.; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B. T. M.; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J.; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L. T.; Ambegaonkar, Gautam P.; Armour, Christine M.; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J.; van den Berg, Sjoerd A. A.; 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 F. M.; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H. G.; 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 A. M.; Stegenga, Merel T.; Stoupa, Athanasia; Subramanian, Gopinath M.; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y.; Wolf, Nicole I.; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E.; Marks, Debora S.; Nicola, Juan P.; Chen, Chi-Hua; Medici, Marco; Visser, W. Edward
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Contemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy: a multi-national registry study | 2026 | Lim, David B N; Bryce, Jillian; Ali, Salma R; Tseretopoulou, Xanthippi; Birkebaek, Niels H; Hannema, Sabine E; Campos-Martorell, Ariadna; Clemente, Maria; Neumann, Uta; Flück, Christa E; Metzger, Sara; Krone, Ruth E; German, Alina; Baronio, Federico; Barat, Pascal; Delagrange, Marine; Vautier, Vanessa; Vieites, Ana; Rey, Rodolfo; Elsedfy, Heba; Atapattu, Navoda; Seneviratne, Sumudu N; Cools, Martine; Guran, Tulay; Yavas Abali, Zehra; Fu, Antony; Janus, Dominika; Shenoy, Savitha; Wasniewska, Malgorzata; Coco, Roberto; Russo, Gianni; Stancampiano, Marianna Rita; Bonfig, Walter; Salerno, Mariacarolina; Claahsen-van der Grinten, Hedi L; Adriaansen, Bas P H; Mozzato, Chiara; Guazzarotti, Laura; Niedziela, Marek; Banaszak-Ziemska, Magdalena; van Eck, Judith; Bachega, Tania; Miranda, Mirela C; Marginean, Otilia; Munarin, Jessica; De Sanctis, Luisa; Probst-Scheidegger, Ursina; Lenherr-Taube, Nina; Konrad, Daniel; O'Connell, Michele; Gawlik-Starzyk, Aneta; Sandberg, David E; Shnorhavorian, Margarett; Krone, Nils; Ahmed, S Faisal; Davies, Justin H | |
| Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration | 2025 | Groeneweg, Stefan; van Geest, Ferdy S.; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B. T. M.; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J.; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L. T.; Ambegaonkar, Gautam P.; Armour, Christine M.; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J.; van den Berg, Sjoerd A. A.; 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 F. M.; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H. G.; 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 A. M.; Stegenga, Merel T.; Stoupa, Athanasia; Subramanian, Gopinath M.; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y.; Wolf, Nicole I.; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E.; Marks, Debora S.; Nicola, Juan P.; Chen, Chi-Hua; Medici, Marco; Visser, W. Edward |