학술논문
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'학술논문'
에서 검색결과 1,239건 | 목록
1~20
Academic Journal
Schnabel-Besson, Elena; Dikow, Nicola; Alex, Karla; Mütze, Ulrike; Straub, Hannah; Doll, Elena Sophia; Mahal, Julia; Brennenstuhl, Heiko; Mayer, Carlotta Julia; Neth, Lars; Hagedorn, Tobias; Högl, Henriette; Settegast, Sascha; Ditzen, Beate; Müller-Terpitz, Ralf; Kölker, Stefan; Schaaf, Christian P.; Winkler, Eva
European Journal of Human Genetics. :1-9
Academic Journal
Settegast, Sascha; Alex, Karla; Dikow, Nicola; Mütze, Ulrike; Schnabel-Besson, Elena; Doll, Elena Sophia; Mahal, Julia; Neth, Lars; Ditzen, Beate; Kölker, Stefan; Müller-Terpitz, Ralf; Schaaf, Christian P.; Winkler, Eva C.
Ethik in der Medizin: Official Journal of the German Academy of Ethics in Medicine. :1-31
Academic Journal
Settegast, Sascha; Alex, Karla; Dikow, Nicola; Mütze, Ulrike; Schnabel-Besson, Elena; Doll, Elena Sophia; Mahal, Julia; Neth, Lars; Ditzen, Beate; Kölker, Stefan; Müller-Terpitz, Ralf; Schaaf, Christian P.; Winkler, Eva C.
Ethik in der Medizin: Official Journal of the German Academy of Ethics in Medicine. :1-33
Academic Journal
Preisner, Fabian; Garbade, Sven F.; Grünert, Sarah C.; Schwarz, Daniel; Jende, Johann M. E.; Kurz, Felix T.; Sturm, Volker; Haas, Dorothea; Syrbe, Steffen; Neugebauer, Julia; Beblo, Skadi; Weigel, Corina; Heiland, Sabine; Bendszus, Martin; Kölker, Stefan; Mütze, Ulrike
Investigative Radiology. Feb 02, 2026
Academic Journal
Doll, Elena Sophia; Alex, Karla; Mayer, Carlotta Julia; Brennenstuhl, Heiko; Mütze, Ulrike; Smith, Hadley Stevens; Raithel, Charlotte; Brähler, Elmar; Müller-Terpitz, Ralf; Kölker, Stefan; Schaaf, Christian P.; Winkler, Eva C.; Ditzen, Beate; Mahal, Julia
Genetics in Medicine Open.
Academic Journal
Köpfer, Felix; Bartosova Medvid, Maria; Fleming, Thomas; Pfeffer, Tilman; Okun, Jürgen Günther; Kölker, Stefan; Hoffmann, Georg Friedrich; Schmitt, Claus Peter; Morath, Marina; Peters, Verena
Scientific Reports. 15(1)
Academic Journal
Servais Aude; Zacchia Miriam; Dehoux Laurène; Shroff Rukshana; Brassier Anais; Taurisano Roberta; Kölker Stefan; Oh Jun; Ariceta Gema; Stojanovic Jelena; Hörster Friederike; Strologo Dello; Spada Marco; Schiff Manuel; Dionisi-Vici Carlo
Kidney Int Rep
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Kidney International Reports, Vol 9, Iss 12, Pp 3362-3374 (2024)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Kidney International Reports, Vol 9, Iss 12, Pp 3362-3374 (2024)
Academic Journal
Adelson, Sophia; Agolini, Emanuele; Al-Maraghi, Aljazi; Alex, Karla; Alkuraya, Fowzan; Akil, Ammira Alshabeeb; Alshehri, Munira; Ansel, Derek; Armstrong, Niki; Aujla, Matthew; Bailey, Don; Baker, Mei; Balciuniene, Jorune; Barry, Andrew; Bennetts, Bruce; Berenger, Melissa; Berg, Jonathan; Bernstein, Donna; Bhatatcharjee, Arindam; Bhatt, Sucheta; Bick, David; Bishop, Tracey; Bitton, Asaf; Boemer, François; Bonhomme, Natasha; Bowley, George; Boyd, Brenna; Brennenstuhl, Heiko; Brenner, Steven; Bresnahan, Mairead; Brewster, Thomas; Brooks, P.J.; Broomberg, Katya; Brower, Amy; Gentile, Mattia; Giordano, Jessica; Jensen, Ulrich Glumer; Godler, David; Gold, Nina; Goldenberg, Aaron; GoldenGrant, Katie; Goldman, Cassie; González de Aledo-Castillo, José Manuel; Gottlieb, Daniel; Green, Robert; Greene, Christopher; Greenstein, Brooke; Grosse, Scott; Grueters, Annette; Gumus, Gulcin; Hagman, Kelly; Hall, Kevin; Harmant, Aymeric; Hartmanis, Sally; Hayeems, Robin; Heald, Rose; Hegde, Madhuri; Heiner-Fokkema, Rebecca; Henneman, Lidewij; Hernan, Becca; Hobbs, Charlotte; Holm, Ingrid; Horwitz, Layla; Hu, Zhanzhi; Iascone, Maria; Irvine, Ken; Jin, Guanjun; Kalbfleisch, Kelsey; Nyegaard, Mette; O'Sullivan, Justin; Ojodu, Jelili; Orsini, Paola; Oza, Andrea; Paleologos, Katrina; Parad, Richard; Peay, Holly; Pelo, Matthew; Philstrom, Carolyn; Pichard, Dominique; Pichini, Amanda; Pirreca, Michelle; Ponikowska, Malgorzata; Ponte, Amy; Posch, Andreas; Powell, Cynthia; Protopsaltis, Liana; Quevedo, Yeyson; Raia, Marianna; Reimer, Rebecca; Rohrwasser, Andy; Rollier, Paul; Rottensten, Lene; Rtskhiladze, Irakli; Sachedina, Nabihah; Sahyoun, George; Satija, Aditi; Schaaf, Christian; Schleit, Jennifer; Scott, Richard; Scully, Lauren; Seeloff, Stacey; Brown, Gemma; Buchanan, James; Bupp, Caleb; Cameron, Candance; Capacchione, Lauren; Carli, Diana; Ceballo, Onassis Castillo; Chan, Kee; Chance, Jillian; Charalambidou, Georgia; Chen, Winnie; Chen, Yun-Ru; Chung, Wendy; Chung, Brian; Clarke, Megan; Clasper, Susan; Cole, F. Sessions; Cope, Heidi; Coury, Stephanie; Cox, Tony; Dangouloff, Tamara; Paul Daniel, Earnest James; Danielsen, Katrin Eivindardottir; Davoine, Emeline; Defay, Tom; Gandhi, Geethanjali Devadoss; Dewulf, Joseph; Diller, Lisa; Dixit, Pakhi; Dolle, Martijn; Downie, Lilian; Drake, Erin; Drury, Suzanne; Duintjer, Annelotte; Duz, Bugrahan; Eckstein, David; Ellinwood, Matthew; Kander, Ines; Kaplun, Lucy; Kasperaviciute, Dalia; Kassahn, Karin; Kauko, Leni; Kaukonen, Riina; Kelly, Nicole; Khangsar, Dhayo; King, Jovanka; Kingsley, Clare; Kingsmore, Stephen; Kirms, Brian; Klein, Rachel; Koelker, Stefan; Kousa, Youssef; Krupoderova, Elizaveta; Kruszka, Paul; Langley, Katherine; Leckie, Ciara; Lecommandeur, Emmanuelle; Ledbetter, David; Lee, Pamela; Lee, Beomhee; Leve, Camille; Lewis, Celine; Lewis, Anna; Liu, Ruby; Longon, Mauro; Lundquist, Alberte; Lunke, Sebastian; MacDuffie, Kate; Malhotra, Ankit; Marcelis, Lionel; Martinez-Fresno, Maria; Matthijs, Gert; Melbardis, Roberts; Merritt, Jessica; Servais, Laurent; Shah, Nidhi; Siitonen, Maija; Singh, Sikha; Siu, Carol; Smith, Hadley; King, Lisa Sniderman; Sondheimer, Neal; St George, Lourdes; Stark, Zornitza; Steiner, Robert; Stoltze, Ulrik; Stray-Pedersen, Asbjørg; Sund, Kristen; Tafas, Paris; Teekakirikul, Polakit; Thanos, Dimitrios; Thurm, Audrey; To, Meekai; Tsipouras, Petros; Tuff-Lacey, Alice; Turner, Heather; Twiss, Philip; Ulph, Fiona; Uribe, Daniel; Urv, Tiina; Vacher, Cora; Van Den Bogaert, Kris; van der Burg, Mirjam; Van Steijvoort, Eva; Veloudi, Yiota; Vengoechea, Elizabeth; Voorhoeve, Els; Vu, Martin; Wasserstein, Melissa; Watson, Michael; Webb, Bryn; Ellsworth, Katarzyna; Badji, Radja Messai; Wedell, Anna; Elsea, Sarah; Metherell, Lou; Westover, Thomas; Encina, Nicolas; Mikkelsen, Nanna Balle; Wiedemann, Alexandra; Etheredge, Harriet; Milko, Laura; Wright, Meredith; Faivre, Laurence; Miller, Nicole; Wu, Cindy; Ferlini, Alessandra; Minten, Thomas; Yeo, Julie; Ferrie, Monica; Morgan, Sian; Yin-Hsiu Chien, Nancy; Finkel, Terri; Mosiewicz, Katarzyna; Yusuff, Shamila; Furu, Petra; Mütze, Ulrike; Zemojtel, Tomasz; Galarza-Cornejo, Jamie; Nicklen, Sukhvinder; Zettler, Bethany; Gao, Ya; Niemela, Minna; Zhao, Zhengyan; Garcia-Villoria, Judit; Niu, Dau-Ming; Ziff, Joanna; Gardner, Liz; Norris, Sarah; Zimmerman, Rebekah; Gaviglio, Amy; Novelli, Antonio; Zuccolo, Michela; Gelb, Michael; Nusair, Arwa; Berg, Jonathan S. ; Chung, Wendy K. ; Cope, Heidi L. ; Eckstein, David J. ; García-Villoria, Judit ; Gelb, Michael H. ; González De Aledo-Castillo, José Manuel ; Golden-Grant, Katie ; Parad, Richard B. ; Sund, Kristen L. ; Green, Robert C. ; Gold, Nina B.
In Genetics in Medicine January 2026 28(1)
Academic Journal
Mütze, Ulrike; Scharré, Svenja; Schnabel-Besson, Elena; Kuseyri Hübschmann, Oya; Höster, Friederike; Tuncel, Ali Tunҫ; Kölker, Stefan; Opladen, Thomas
European Journal of Paediatric Neurology. 56:84-96
Academic Journal
Scharre, Svenja ; Mengler, Katharina; Schnabel, Elena; Kuseyri Hübschmann, Oya; Tuncel, Ali Tunç; Hoffmann, Georg Friedrich; Garbade, Sven F.; Mütze, Ulrike; Kölker, Stefan
In Genetics in Medicine January 2025 27(1)
Academic Journal
Zygmunt, Aldona; Ververi, Athina; Siu, Carol; Ponzi, Emanuela; Bertini, Enrico; Xinwen, Huang; King, Jovanka; Kassahn, Karin; Koutsogianni, Maria; Valente, Maria Luisa; Pelo, Matthew J.; Gentile, Mattia; Orsini, Paola; Ficarella, Romina; Sansen, Stefaan; Rui, Xiao; Zhengyan, Zhao; Goldenberg, Aaron; Satija, Aditi; Lundquist, Alberte; Ferlini, Alessandra; Wiedemann, Alexandra; Tuff-Lacey, Alice; Al-Maraghi, Aljazi; Pichini, Amanda; Akil, Ammira Alshabeeb; Brower, Amy; Gaviglio, Amy; Ponte, Amy; Oza, Andrea; Posch, Andreas; Barry, Andrew; Rohrwasser, Andy; Malhotra, Ankit; Lewis, Anna; Wedell, Anna; Duintjer, Annelotte; Grueters, Annette; Novelli, Antonio; Bhatatcharjee, Arindam; Nusair, Arwa; Bitton, Asaf; Stray-Pedersen, Asbjørg; Thurm, Audrey; Harmant, Aymeric; Hernan, Becca; Lee, Beomhee; Zettler, Bethany; Boyd, Brenna; Chung, Brian; Kirmse, Brian; Greenstein, Brooke; Bennetts, Bruce; Webb, Bryn; Duz, Bugrahan; Bupp, Caleb; Level, Camille; Cameron, Candance; Philstrom, Carolyn; Goldman, Cassie; Lewis, Celine; Hobbs, Charlotte; Schaaf, Christian; Greene, Christopher; Leckie, Ciara; Wu, Cindy; Kingsley, Clare; Vacher, Cora; Powell, Cynthia; Kasperaviciute, Dalia; Gottlieb, Daniel; Uribe, Daniel; Niu, Dau-Ming; Bick, David; Eckstein, David; Godler, David; Ledbetter, David; Ansel, Derek; Khangsar, Dhayo; Carli, Diana; Thanos, Dimitrios; Pichard, Dominique; Bailey, Don; Bernstein, Donna; Paul Daniel, Earnest James; Vengoechea, Elizabeth; Krupoderova, Elizaveta; Voorhoeve, Els; Agolini, Emanuele; Davoine, Emeline; Lecommandeur, Emmanuelle; Drake, Erin; Van Steijvoort, Eva; Cole, F. Sessions; Ulph, Fiona; Alkuraya, Fowzan; Boemer, François; Gandhi, Geethanjali Devadoss; Brown, Gemma; Bowley, George; Sahyoun, George; Charalambidou, Georgia; Matthijs, Gert; Jin, Guanjun; Gumus, Gulcin; Smith, Hadley; Etheredge, Harriet; Turner, Heather; Cope, Heidi; Brennenstuhl, Heiko; Peay, Holly; Pickering, Holly; Kander, Ines; Holm, Ingrid; Rtskhiladze, Irakli; Buchanan, James; Galarza-Cornejo, Jamie; Ojodu, Jelili; Schleit, Jennifer; Giordano, Jessica; Merritt, Jessica; Chance, Jillian; Ziff, Joanna; Berg, Jonathan; Balciuniene, Jorune; González de Aledo-Castillo, José Manuel; Dewulf, Joseph; Garcia-Villoria, Judit; Yeo, Julie; O'Sullivan, Justin; Alex, Karla; Ellsworth, Katarzyna; Mosiewicz, Katarzyna; MacDuffie, Kate; Langley, Katherine; GoldenGrant, Katie; Danielsen, Katrin Eivindardottir; Paleologos, Katrina; Broomberg, Katya; Chan, Kee; Hagman, Kelly; Kalbfleisch, Kelsey; Irvine, Ken; Hall, Kevin; Van Den Bogaert, Kris; Sund, Kristen; Milko, Laura; Capacchione, Lauren; Scully, Lauren; Faivre, Laurence; Servais, Laurent; Horwitz, Layla; Rottensten, Lene; Kauko, Leni; Protopsaltis, Liana; Henneman, Lidewij; Downie, Lilian; Marcelis, Lionel; Diller, Lisa; King, Lisa Sniderman; Gardner, Liz; Metherell, Lou; St George, Lourdes; Kaplun, Lucy; Hegde, Madhuri; Siitonen, Maija; Bresnahan, Mairead; Ponikowska, Malgorzata; Iascone, Maria; Martinez-Fresno, Maria; Raia, Marianna; Dolle, Martijn; Vu, Martin; Aujla, Matthew; Ellinwood, Matthew; Pelo, Matthew; Longoni, Mauro; To, Meekai; Clarke, Megan; Baker, Mei; Berenger, Melissa; Wasserstein, Melissa; Wright, Meredith; Nyegaard, Mette; Gelb, Michael; Watson, Michael; Zuccolo, Michela; Pirreca, Michelle; Niemela, Minna; van der Burg, Mirjam; Ferrie, Monica; Alshehri, Munira; Sachedina, Nabihah; Yin-Hsiu Chien, Nancy; Mikkelsen, Nanna Balle; Bonhomme, Natasha; Sondheimer, Neal; Encina, Nicolas; Kelly, Nicole; Miller, Nicole; Shah, Nidhi; Armstrong, Niki; Gold, Nina; Ceballo, Onassis Castillo; Dixit, Pakhi; Lee, Pamela; Tafas, Paris; Kruszka, Paul; Rollier, Paul; Furu, Petra; Tsipouras, Petros; Twiss, Philip; Brooks, P.J.; Teekakirikul, Polakit; Klein, Rachel; Badji, Radja Messai; Heiner-Fokkema, Rebecca; Reimers, Rebecca; Zimmerman, Rebekah; Parad, Richard; Scott, Richard; Kaukonen, Riina; Green, Robert; Steiner, Robert; Melbardis, Roberts; Hayeems, Robin; Heald, Rose; Liu, Ruby; Hartmanis, Sally; Elsea, Sarah; Norris, Sarah; Grosse, Scott; Lunke, Sebastian; Yusuff, Shamila; Morgan, Sian; Singh, Sikha; Adelson, Sophia; Seeloff, Stacey; Koelker, Stefan; Coury, Stephanie; Kingsmore, Stephen; Brenner, Steven; Bhatt, Sucheta; Nicklen, Sukhvinder; Clasper, Susan; Drury, Suzanne; Dangouloff, Tamara; Finkel, Terri; Brewster, Thomas; Minten, Thomas; Westover, Thomas; Urv, Tiina; Defay, Tom; Zemojtel, Tomasz; Cox, Tony; Bishop, Tracey; Jensen, Ulrich Glumer; Stoltze, Ulrik; Mütze, Ulrike; Chung, Wendy; Chen, Winnie; Gao, Ya; Quevedo, Yeyson; Veloudi, Yiota; Kousa, Youssef; Chen, Yun-Ru; Hu, Zhanzhi; Stark, Zornitza; Bick, Sarah ; Gehlenborg, Nils ; Amendola, Laura M. ; Coffey, Alison J. ; Kirschner, Janbernd ; Russell, Bianca E. ; Sund, Kristen L. ; Taft, Ryan J. ; Zouk, Hana ; Green, Robert C. ; Gold, Nina B.
In Genetics in Medicine July 2025 27(7)
Academic Journal
Doll, Elena Sophia ; Lerch, Seraina Petra ; Schmalenberger, Katja Maria ; Alex, Karla ; Kölker, Stefan ; Brennenstuhl, Heiko ; Pereira, Stacey ; Smith, Hadley ; Winkler, Eva Caroline ; Mahal, Julia ; Ditzen, Beate
In Genetics in Medicine May 2025 27(5)
Academic Journal
Baum, Petra; Baumgartner, Manuela; Bertsche, Astrid; Blankenburg, Markus; Denecke, Jonas; Deschauer, Marcus; Eckenweiler, Matthias; Geis, Tobias; Goldhahn, Klaus; Groß, Martin; Günther, René; Hagenacker, Tim; Hamelmann, Eckard; Husain, Ralf A.; Kamm, Christoph; Kauffmann, Birgit; Koch, Jan Christoph; Löscher, Wolfgang; Ludolph, Albert; Martin, Pascal; Mensch, Alexander; Meyer zu Hörste, Gerd; Neuwirth, Christoph; Petri, Susanne; Pühringer, Manuel; Rathmann, Imke; Schäfer, Dorothee; Schimmel, Mareike; Schrank, Bertold; Schreiber-Katz, Olivia; Schwerin-Nagel, Anette; Smitka, Martin; Steinbach, Meike; Steiner, Elisabeth; Stoffels, Johannes; Theophil, Manuela; Topakian, Raffi; Türk, Matthias; Vorgerd, Matthias; Walter, Maggie C.; Weiler, Markus; Wiegand, Gert; Wunderlich, Gilbert; Wurster, Claudia Diana; Zeller, Daniel; Metelmann, Moritz; Zeiner, Fiona; Pilshofer, Veronika; Rappold, Mika; Pauschek, Josefine; Reihle, Christof; Homma, Annette Karolin; Lingor, Paul; Henzi, Bettina; Reinhardt, Tabea; Holzwarth, Dorothea; Wittmann, Wolfgang; Kappel, Stefan; Freigang, Maren; Stolte, Benjamin; Martakis, Kyriakos; Classen, Georg; Roland-Schäfer, Doris; Steuernagel, Daniela; Hartmann, Hans; Fischer, Sophie; Wermuth, Marieke; Muhandes, Mohamad Tareq; Hotter, Anna; Uzelac, Zeljko; Naegel, Steffen; Wiethoff, Sarah; Braun, Nathalie; Bjelica, Bogdan; Kölbel, Heike; Angelova-Toshkina, Daniela; Wilken, Bernd; Osmanovic, Alma; Fiedler, Barbara; Plecko, Barbara; Tomforde, Maike; Voelkl, Thomas; von Moers, Arpad; Müller, Petra; Behring, Bettina; Güttsches, Anne; Reilich, Peter; Wick, Wolfgang; Stoltenburg, Corinna; Witzel, Simon; Bellut, Julia; Hoffmann, Georg Friedrich; Mörtlbauer, Kathrin; Ille, Alexandra; Schroth, Michael; Driemeyer, Joenna; Semmler, Luisa; Müller, Cornelia; Dörnbrack, Katharina; Zemlin, Michael; Geitmann, Stephanie; Lapp, Hanna Sophie; Brakemeier, Svenja; Gehrke, Tascha; Ntemiris, Klearchos; Kaiser, Nadja; Borowski, Sabine; Ramadan, Barbara; Hustedt, Ulf; Baum, Tobias; Schneider, Ilka; Akova-Oztürk, Esra; Vill, Katharina; Dibrani, Zylfie; Wohnrade, Camilla; Della-Marina, Adela; Jung, Lisa; Deba, Timo; Zobel, Joachim; Schallner, Jens; Kraut, Christina; Vollmann, Peter; Schüssler, Stephanie; Roeder, Melanie; Hiebeler, Miriam; Berberich, Nicole; Schneider, Joanna; Brauner, Brigitte; Kölker, Stefan; Pernegger, Elke; Gosk-Tomek, Magdalena; Braun, Sarah; Weiss, Deike; Machetanz, Gerrit; Langer, Thorsten; Saier, Christina; Baumann, Sandra; Hettrich, Sabine; Dworschak, Gabriel; Müller-Kaempffer, Katharina; Dittes, Isabelle; Thimm, Andreas; Quinten, Lisa; Albers, Kristina; Bevot, Andrea; Bretschneider, Christa; Dorst, Johannes; Kendzierski, Thomas; Hannibal, Iris; Bischofberger, Jasmin; Riesmeier, Tilman; Gangfuß, Andrea; Johann to Settel, Eva; Grässl, Michael; Fiebig, Susan; Hollerauer, Carmen; Seeber, Lea; Krahwinkler, Ina; Lange, Irene; Montagnese, Federica; Mann-Richter, Marcel; Wagner, Alexandra; Leypold, Christine; Saffari, Afshin; Anna, Elmecker; Wiesenhofer, Anna; Wendel, Eva-Maria; Steffens, Paula-Sophie; Wider, Sabine; Tassoni, Adrian; Dall, Andrea; Busch, Franziska; Zeisler, Daniela; Wessel, Maria; Lipka, Jaqueline; Hackemer, Andrea; Plugge, Loreen; Jansen, Eva; Roth, Erdmute; Schuster, Joachim; Koelsch, Anna; Warken-Madelung, Birgit; Schwippert, Michaela; Holtkamp, Britta; Köbbing, Katja; Claeys, Sander; Foerster, Sandy; Thiele, Simone; Rochau-Trumpp, Heidi; George, Annette; Niesert, Moritz; Neimair, Tanja; Vettori, Katia; Haverkamp, Julia; Taherpour, Jila; Hug, Juliane; Wenzel, Franziska; Bant, Christina; Baur, Ute; Bühner, Kathrin; Schlag, Melina; Ruß, Lena; Küpper, Hanna; Müller, Anja; Wollinsky, Kurt; Well, Therese; Leinert, Antonia; Andres, Barbara; Omran, Heymut; Claus, Nicole; Hagenmeyer, Anna; Schnurr, Marion; Dukic, Vladimir; Ludolph, Albert Christian; Specht, Sabine; Angermair, Verena; Hüpper, Anna; Banholzer, Daniela; Stein, Sabine; Kampowski, Tim; Richmann, Marion; Nicolai, Sylke; Atta, Omar; Meßmer, Birgit; de Vries, Heike; Rotenfusser, Elisabeth; Oscmanovic, Alma; Renger, Isabelle; Guillemot, Hélène; Lehnert, Ilka; Grünwedel, Mike; Grimm, Laura; Stocker, Guido; Kaindl, Angela M.; Hoevel, Annegret; Stadler, Theresa; Fischer, Michal; Vogt, Sibylle; Gebert, Axel; Goldbach, Susanne; Kirschner, Janbernd; Lochmüller, Hanns; Müller-Felber, Wolfgang; Pechmann, Astrid; Schara-Schmidt, Ulrike; Probst-Schendzielorz, Kristina; Lang, Annina; Nitzsche, Maren; Hammer, Julie; Müller-Kaempfer, Katharina; Wirner-Piotrowski, Corinna; van der Stam, Lieske; Bongartz, Anke; Enzmann, Cornelia; Fluss, Joël; Galiart, Elea; Jacquier, David; Metzler, Dominique Baumann; Tscherter, Anne; Weiß, Claudia ; Becker, Lena-Luise ; Friese, Johannes ; Blaschek, Astrid ; Hahn, Andreas ; Illsinger, Sabine ; Schwartz, Oliver ; Bernert, Günther ; Hagen, Maja von der ; Flotats-Bastardas, Marina ; Schreiber, Gudrun ; Schara, Ulrike ; Trollmann, Regina ; Horber, Veronka ; Wilichowski, Ekkehard ; Baumann, Matthias ; Klein, Andrea ; Eisenkölbl, Astrid ; Köhler, Cornelia ; Stettner, Georg M. ; Cirak, Sebahattin ; Hasselmann, Oswald ; Garbade, Sven F. ; Johannsen, Jessika ; Ziegler, Andreas
In The Lancet Regional Health - Europe December 2024 47
Academic Journal
Morris, Andrew A. M.; Sokolová, Jitka; Pavlíková, Markéta; Gleich, Florian; Kölker, Stefan; Dionisi‐Vici, Carlo; Baumgartner, Matthias R.; Hannibal, Luciana; Blom, Henk J.; Huemer, Martina; Kožich, Viktor; Arantes, Rodrigo R.; Blanco, Francisco Arrieta; Baghdasaryan, Anna; Ballhausen, Diana; Blasco‐Alonso, Javier; Brouwers, Martijn; Bueno, María; Burgos, Rosa; Villarroya, Elvira Cañedo; Cano, Aline; Couce, María‐Luz; Crushell, Ellen; Heras, Javier De Las; Ficicioglu, Can; Jiménez, María Concepción García; Gaspar, Ana; Leguina, Domingo González‐Lamuño; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Janssen, Mirian C. H.; Ješina, Pavel; Kaufman, Christina; Lachmann, Robin; Lavigne, Christian; Lund, Allan M.; Lüsebrink, Natalia; Maillot, Francois; Martins, Ana Maria; Olivas, Silvia Meavilla; Mention, Karine; Miñana, Isidro Vitoria; Mochel, Fanny; Monavari, Ahmad; Moreira, Sónia; Moreno, Carolina Araujo; Mundy, Helen; Murphy, Elaine; Olivieri, Giorgia; Paquay, Stéphanie; Peña‐Quintana, Luís; Ramadža, Danijela Petković; Porras‐Hurtado, Gloria Liliana; Quijada‐Fraile, Pilar; Redonnet‐Vernhet, Isabelle; Rennings, Alexander; Pons, Mònica Ruiz; Santra, Saikat; Servais, Aude; Schiaffino, Maria Cristina; Schiff, Manuel; Schwahn, Bernd C.; Schwartz, Ida V. D.; Sremba, Leighann J.; Stainforth, Collette; Stepien, Karolina Maria; Sykut‐Cegielska, Jolanta; Terry, Allyson; Piñera, Inmaculada Vives; Williams, Monique; Zeman, Jiří; Zielonka, Matthias
J Inherit Metab Dis
Journal of Inherited Metabolic Disease [eISSN 0141-8955], v. 48(1) (enero 2025)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
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Journal of Inherited Metabolic Disease [eISSN 0141-8955], v. 48(1) (enero 2025)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
instname
Academic Journal
Preisner, Fabian; Garbade, Sven F.; Harting, Inga; Wortmann, Saskia B.; Muhlhausen, Chris; Heiland, Sabine; Bendszus, Martin; Kolker, Stefan; Boy, Nikolas
Academic Journal
Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; Mclin, Valérie Anne; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanja; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger
Hepatology
Hepatology (Baltimore, Md.)
United States
Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; ... (2024). Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology, 79(5), pp. 1075-1087. Wiley 10.1097/HEP.0000000000000684
Hepatology 79, 1075-1087 (2023)
Hepatology (Baltimore, Md.)
United States
Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; ... (2024). Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology, 79(5), pp. 1075-1087. Wiley 10.1097/HEP.0000000000000684
Hepatology 79, 1075-1087 (2023)
Academic Journal
Posset, Roland; Zielonka, Matthias; Gleich, Florian; Garbade, Sven F.; Hoffmann, Georg F.; Kölker, Stefan; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group; Sokal, Etienne
Journal of inherited metabolic disease, Vol. 46, no. 6, p. 1007-1016 (2023)
Academic Journal
Mütze, Ulrike; Ottenberger, Alina; Gleich, Florian; Maier, Esther M.; Lindner, Martin; Husain, Ralf A.; Palm, Katja; Beblo, Skadi; Freisinger, Peter; Santer, René; Thimm, Eva; Vom Dahl, Stephan; Weinhold, Natalie; Grohmann‐Held, Karina; Haase, Claudia; Hennermann, Julia B.; Hörbe‐Blindt, Alexandra; Kamrath, Clemens; Marquardt, Iris; Marquardt, Thorsten; Behne, Robert; Haas, Dorothea; Spiekerkoetter, Ute; Hoffmann, Georg F.; Garbade, Sven F.; Grünert, Sarah C.; Kölker, Stefan
Annals of Clinical and Translational Neurology. April, 2024, Vol. 11 Issue 4, p883, 898 p.
Academic Journal
Nikolas Boy; Chris Mühlhausen; Esther M. Maier; Diana Ballhausen; Matthias R. Baumgartner; Skadi Beblo; Peter Burgard; Kimberly A. Chapman; Dries Dobbelaere; Jana Heringer‐Seifert; Sandra Fleissner; Karina Grohmann‐Held; Gabriele Hahn; Inga Harting; Georg F. Hoffmann; Frank Jochum; Daniela Karall; Vassiliki Konstantopoulous; Michael B. Krawinkel; Martin Lindner; E. M. Charlotte Märtner; Jean‐Marc Nuoffer; Jürgen G. Okun; Barbara Plecko; Roland Posset; Katja Sahm; Sabine Scholl‐Bürgi; Eva Thimm; Magdalena Walter; Monique Williams; Stephan vom Dahl; Athanasia Ziagaki; Johannes Zschocke; Stefan Kölker
Journal of inherited metabolic disease, vol. 46, no. 3, pp. 482-519
Academic Journal
Scharre, Svenja; Posset, Roland; Garbade, Sven F.; Gleich, Florian; Seidl, Marie J.; Druck, Ann‐Catrin; Okun, Jürgen G.; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Hoffmann, Georg F.; Kölker, Stefan; Zielonka, Matthias; Ah Mew, Nicholas; Baumgartner, Matthias R.; Berry, Gerard T.; Berry, Susan A.; Burrage, Lindsay; Diaz, George A.; Ficicioglu, Can; Kisin, Genya; Konczal, Laura; Lam, Christina; McCandless, Shawn E.; Merritt, J. Lawrence; Schulze, Andreas; Walter, Magdalena E.; Wilson, Ashley; Wong, Derek; Arnaudo, Florence; Augoustides‐ Savvopoulou, Persephone; Barić, Ivo; Bosch, Annet M.; Cano, Aline; Chien, Yin‐Hsiu; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Eyskens, Francois; Freisinger, Peter; Garcia‐Cazorla, Angeles; Honzik, Tomas; Karall, Daniela; Lund, Allan M.; Murphy, Elaine; Santer, René; Schiff, Manuel; Skouma, Anastasia; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Zeman, Jiri; for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1715-1726 (2022)
Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, 'Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726. https://doi.org/10.1002/acn3.51668
Lund, A M & for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, ' Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency ', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726 . https://doi.org/10.1002/acn3.51668
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1715-1726 (2022)
Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, 'Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726. https://doi.org/10.1002/acn3.51668
Lund, A M & for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, ' Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency ', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726 . https://doi.org/10.1002/acn3.51668
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