학술논문
'학술논문'
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1~10
Academic Journal
Stegmann, Jil D.; Kalanithy, Jeshurun C.; Dworschak, Gabriel C.; Ishorst, Nina; Mingardo, Enrico; Lopes, Filipa M.; Ho, Yee Mang; Grote, Phillip; Lindenberg, Tobias T.; Yilmaz, Öznur; Channab, Khadija; Seltzsam, Steve; Shril, Shirlee; Hildebrandt, Friedhelm; Boschann, Felix; Heinen, André; Jolly, Angad; Myers, Katherine; McBride, Kim; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Capra, Valeria; Accogli, Andrea; Maitz, Silvia; Spano, Alice; Olson, Rory J.; Klee, Eric W.; Lanpher, Brendan C.; Jang, Se Song; Chae, Jong-Hee; Steinbauer, Philipp; Rieder, Dietmar; Janecke, Andreas R.; Vodopiutz, Julia; Vogel, Ida; Blechingberg, Jenny; Cohen, Jennifer L.; Riley, Kacie; Klee, Victoria; Walsh, Laurence E.; Begemann, Matthias; Elbracht, Miriam; Eggermann, Thomas; Stoppe, Arzu; Stuurman, Kyra; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Mulhern, Maureen S.; Sands, Tristan T.; Cytrynbaum, Cheryl; Weksberg, Rosanna; Isidori, Federica; Pippucci, Tommaso; Severi, Giulia; Montanari, Francesca; Kruer, Michael C.; Bakhtiari, Somayeh; Darvish, Hossein; Reutter, Heiko; Hagelueken, Gregor; Geyer, Matthias; Woolf, Adrian S.; Posey, Jennifer E.; Lupski, James R.; Odermatt, Benjamin; Hilger, Alina C.
npj Genomic Medicine. 9(1)
Academic Journal
Konstantin Deutsch; Verena Klämbt; Thomas M. Kitzler; Tilman Jobst-Schwan; Ronen Schneider; Florian Buerger; Steve Seltzsam; Sherif El Desoky; Jameela A. Kari; Farkhanda Hafeez; Maria Szczepańska; Loai A. Eid; Hazem S. Awad; Muna Al-Saffar; Neveen A. Soliman; Velibor Tasic; Camille Nicolas-Frank; Kirollos Yousef; Luca M. Schierbaum; Sophia Schneider; Abdul Halawi; Izzeldin Elmubarak; Katharina Lemberg; Shirlee Shril; Shrikant M. Mane; Nancy Rodig; Friedhelm Hildebrandt
Genes and Diseases, Vol 11, Iss 5, Pp 101111- (2024)
Academic Journal
Jil D. Stegmann; Jeshurun C. Kalanithy; Gabriel C. Dworschak; Nina Ishorst; Enrico Mingardo; Filipa M. Lopes; Yee Mang Ho; Phillip Grote; Tobias T. Lindenberg; Öznur Yilmaz; Khadija Channab; Steve Seltzsam; Shirlee Shril; Friedhelm Hildebrandt; Felix Boschann; André Heinen; Angad Jolly; Katherine Myers; Kim McBride; Mir Reza Bekheirnia; Nasim Bekheirnia; Marcello Scala; Manuela Morleo; Vincenzo Nigro; Annalaura Torella; TUDP consortium; Michele Pinelli; Valeria Capra; Andrea Accogli; Silvia Maitz; Alice Spano; Rory J. Olson; Eric W. Klee; Brendan C. Lanpher; Se Song Jang; Jong-Hee Chae; Philipp Steinbauer; Dietmar Rieder; Andreas R. Janecke; Julia Vodopiutz; Ida Vogel; Jenny Blechingberg; Jennifer L. Cohen; Kacie Riley; Victoria Klee; Laurence E. Walsh; Matthias Begemann; Miriam Elbracht; Thomas Eggermann; Arzu Stoppe; Kyra Stuurman; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Maureen S. Mulhern; Tristan T. Sands; Cheryl Cytrynbaum; Rosanna Weksberg; Federica Isidori; Tommaso Pippucci; Giulia Severi; Francesca Montanari; Michael C. Kruer; Somayeh Bakhtiari; Hossein Darvish; Heiko Reutter; Gregor Hagelueken; Matthias Geyer; Adrian S. Woolf; Jennifer E. Posey; James R. Lupski; Benjamin Odermatt; Alina C. Hilger
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Academic Journal
Chen-Han Wilfred Wu; Tze Y. Lim; Chunyan Wang; Steve Seltzsam; Bixia Zheng; Luca Schierbaum; Sophia Schneider; Nina Mann; Dervla M. Connaughton; Makiko Nakayama; Amelie T. van der Ven; Rufeng Dai; Caroline M. Kolvenbach; Franziska Kause; Isabel Ottlewski; Natasa Stajic; Neveen A. Soliman; Jameela A. Kari; Sherif El Desoky; Hanan M. Fathy; Danko Milosevic; Daniel Turudic; Muna Al Saffar; Hazem S. Awad; Loai A. Eid; Aravind Ramanathan; Prabha Senguttuvan; Shrikant M. Mane; Richard S. Lee; Stuart B. Bauer; Weining Lu; Alina C. Hilger; Velibor Tasic; Shirlee Shril; Simone Sanna-Cherchi; Friedhelm Hildebrandt
European Urology Open Science, Vol 44, Iss , Pp 106-112 (2022)
Academic Journal
Shao, Diane D.; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R. Sean; Smith, Richard S.; Majmundar, Amar J.; Ameziane, Najim; Neil, Jennifer E.; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S.; Schlaeger, Thorsten M.; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z.; Rento, Lariza M.; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A. James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(6):1158-1162
Academic Journal
Verena Klämbt; Youying Mao; Ronen Schneider; Florian Buerger; Hanan Shamseldin; Ana C. Onuchic-Whitford; Konstantin Deutsch; Thomas M. Kitzler; Makiko Nakayama; Amar J. Majmundar; Nina Mann; Hannah Hugo; Eugen Widmeier; Weizhen Tan; Heidi L. Rehm; Shrikant Mane; Richard P. Lifton; Fowzan S. Alkuraya; Shirlee Shril; Friedhelm Hildebrandt
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
Academic Journal
Deutsch, K.; Klämbt, V.; Kitzler, T.M.; Jobst-Schwan, T.; Schneider, R.; Buerger, F.; Seltzsam, S.; Nicolas-Frank, C.; Yousef, K.; Schierbaum, L.M.; Schneider, S.; Halawi, A.; Elmubarak, I.; Lemberg, K.; Shril, S.; Rodig, N.; Hildebrandt, F.; El Desoky, S.; Kari, J.A.; Hafeez, F.; Szczepańska, M.; Eid, L.A.; Awad, H.S.; Al-Saffar, M.; Soliman, N.A.; Tasic, V.; Mane, S.M.
In: Genes and Diseases . (Genes and Diseases, September 2024, 11(5))
Academic Journal
de Fallois, J.; Petzold, F.; Münch, J.; Findeisen, C.; Halbritter, J.; Sieckmann, T.; Kirschner, K.M.; Schönauer, R.; Pauly, M.; Vasileiou, G.; Reis, A.; Kampmeier, A.; Kuechler, A.; Decker, E.; Bergmann, C.; Platzer, K.; Tasic, V.; Shril, S.; Hildebrandt, F.; Chung, W.K.
In: Kidney International Reports . (Kidney International Reports, August 2024, 9(8):2484-2497)
Academic Journal
Lemberg, K.; Mertens, N.D.; Yousef, K.; Schneider, R.; Merz, L.M.; Mansour, B.; Salmanullah, D.; Kolvenbach, C.M.; Saida, K.; Yu, S.; Hölzel, S.; Nicolas Frank, C.; Franken, G.A.C.; Shril, S.; Buerger, F.; Hildebrandt, F.; Steinsapir, A.; Goncalves, K.A.
In: Scientific Reports . (Scientific Reports, December 2024, 14(1))
Academic Journal
Elmubarak, I.; Shril, S.; Mansour, B.; Bao, A.; Kolvenbach, C.M.; Hildebrandt, F.; Schneider, R.; Kari, J.A.; Shalaby, M.A.; El Desoky, S.
In: Pediatric Nephrology . (Pediatric Nephrology, October 2024, 39(10):2939-2945)
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