학술논문
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'학술논문'
에서 검색결과 194건 | 목록
1~20
Academic Journal
Wallmeier, Julia; Frank, Diana; Shoemark, Amelia; Nöthe-Menchen, Tabea; Cindric, Sandra; Olbrich, Heike; Loges, Niki T.; Aprea, Isabella; Dougherty, Gerard W.; Pennekamp, Petra; Kaiser, Thomas; Mitchison, Hannah M.; Hogg, Claire; Carr, Siobhán B.; Zariwala, Maimoona A.; Ferkol, Thomas; Leigh, Margaret W.; Davis, Stephanie D.; Atkinson, Jeffrey; Dutcher, Susan K.; Knowles, Michael R.; Thiele, Holger; Altmüller, Janine; Krenz, Henrike; Wöste, Marius; Brentrup, Angela; Ahrens, Frank; Vogelberg, Christian; Morris-Rosendahl, Deborah J.; Omran, Heymut
The American Journal of Human Genetics. 105:1030-1039
Academic Journal
Gerard W. Dougherty; Katsutoshi Mizuno; Tabea Nöthe-Menchen; Yayoi Ikawa; Karsten Boldt; Asaf Ta-Shma; Isabella Aprea; Katsura Minegishi; Yuan-Ping Pang; Petra Pennekamp; Niki T. Loges; Johanna Raidt; Rim Hjeij; Julia Wallmeier; Huda Mussaffi; Zeev Perles; Orly Elpeleg; Franziska Rabert; Hidetaka Shiratori; Stef J. Letteboer; Nicola Horn; Samuel Young; Timo Strünker; Friederike Stumme; Claudius Werner; Heike Olbrich; Katsuyoshi Takaoka; Takahiro Ide; Wang Kyaw Twan; Luisa Biebach; Jörg Große-Onnebrink; Judith A. Klinkenbusch; Kavita Praveen; Diana C. Bracht; Inga M. Höben; Katrin Junger; Jana Gützlaff; Sandra Cindrić; Micha Aviram; Thomas Kaiser; Yasin Memari; Petras P. Dzeja; Bernd Dworniczak; Marius Ueffing; Ronald Roepman; Kerstin Bartscherer; Nicholas Katsanis; Erica E. Davis; Israel Amirav; Hiroshi Hamada; Heymut Omran
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
Academic Journal
Loges, Niki T.; Antony, Dinu; Maver, Ales; Deardorff, Matthew A.; Güleç, Elif Yýlmaz; Gezdirici, Alper; Nöthe-Menchen, Tabea; Höben, Inga M.; Jelten, Lena; Frank, Diana; Werner, Claudius; Tebbe, Johannes; Wu, Kaman; Goldmuntz, Elizabeth; Čuturilo, Goran; Krock, Bryan; Ritter, Alyssa; Hjeij, Rim; Bakey, Zeineb; Pennekamp, Petra; Dworniczak, Bernd; Brunner, Han; Peterlin, Borut; Tanidir, Cansaran; Olbrich, Heike; Omran, Heymut; Schmidts, Miriam
Am J Hum Genet
American Journal of Human Genetics, 103, 6, pp. 995-1008
The American Journal of Human Genetics
American Journal of Human Genetics, 103, 6, pp. 995-1008
The American Journal of Human Genetics
Academic Journal
Höben, Inga M.; Hjeij, Rim; Olbrich, Heike; Dougherty, Gerard W.; Nöthe-Menchen, Tabea; Aprea, Isabella; Frank, Diana; Pennekamp, Petra; Dworniczak, Bernd; Wallmeier, Julia; Raidt, Johanna; Nielsen, Kim G.; Philipsen, Maria C.; Santamaria, Francesca; VENDITTO, LAURA; Amirav, Israel; Mussaffi, Huda; Prenzel, Freerk; Wu, Kaman; Bakey, Zeineb; Schmidts, Miriam; Loges, Niki T.; Omran, Heymut
American Journal of Human Genetics, 102, 5, pp. 973-984
The American Journal of Human Genetics
The American Journal of Human Genetics
Academic Journal
Loges, Niki T.; Marthin, June Kehlet; Raidt, Johanna; Olbrich, Heike; Hoeben, Inga M.; Cindric, Sandra; Bracht, Diana; Koenig, Julia; Rieck, Cynthia; George, Sebastian; Kloth, Tim Luis; Wohlgemuth, Kai; Pennekamp, Petra; Dworniczak, Bernd; Holgersen, Mathias G.; Roemel, Jobst; Schmalstieg, Christian; Aprea, Isabella; Mortensen, Jann; Nielsen, Kim G.; Omran, Heymut
Academic Journal
Dougherty, Gerard W.; Ostrowski, Lawrence E.; Noethe-Menchen, Tabea; Raidt, Johanna; Schramm, Andre; Olbrich, Heike; Yin, Weining; Sears, Patrick R.; Dang, Hong; Smith, Amanda J.; Beule, Achim G.; Hjeij, Rim; Rutjes, Niels; Haarman, Eric G.; Maas, Saskia M.; Ferkol, Thomas W.; Noone, Peadar G.; Olivier, Kenneth N.; Bracht, Diana C.; Barbry, Pascal; Zaragosi, Laure-Emmanuelle; Fierville, Morgane; Kliesch, Sabine; Wohlgemuth, Kai; Koenig, Julia; George, Sebastian; Loges, Niki T.; Ceppe, Agathe; Markovetz, Matthew R.; Luo, Hong; Guo, Ting; Rizk, Hoda; Eldesoky, Tarek; Dahlke, Katrin; Boldt, Karsten; Ueffing, Marius; Hill, David B.; Pang, Yuan-Ping; Knowles, Michael R.; Zariwala, Maimoona A.; Omran, Heymut
Academic Journal
Abitbul, Revital ; Amirav, Israel ; Blau, Hannah ; Alkrinawi, Soliman ; Aviram, Micha ; Shoseyov, David ; Bentur, Lea ; Avital, Avraham ; Springer, Chaim ; Lavie, Moran ; Prais, Dario ; Dabbah, Husein ; Elias, Nael ; Elizur, Arnon ; Goldberg, Shmuel ; Hevroni, Avigdor ; Kerem, Eitan ; Luder, Anthony ; Roth, Yehudah ; Cohen-Cymberknoh, Malena ; Ben Ami, Marta ; Mandelberg, Avigdor ; Livnat, Galit ; Picard, Elie ; Rivlin, Joseph ; Rotschild, Moshe ; Soferman, Ruth ; Loges, Niki T. ; Olbrich, Heike ; Werner, Claudius ; Wolter, Alexander ; Herting, Martina ; Wallmeier, Julia ; Raidt, Johanna ; Omran, Heymut ; Mussaffi, Huda
In Respiratory Medicine October 2016 119:41-47
Academic Journal
Paff, Tamara; Loges, Niki T.; Aprea, Isabella; Wu, Kaman; Bakey, Zeineb; Haarman, Eric G.; Daniels, Johannes M.A.; Sistermans, Erik A.; Bogunovic, Natalija; Dougherty, Gerard W.; Höben, Inga M.; Große-Onnebrink, Jörg; Matter, Anja; Olbrich, Heike; Werner, Claudius; Pals, Gerard; Schmidts, Miriam; Omran, Heymut; Micha, Dimitra
Am J Hum Genet
Paff,T , Loges , N T , Aprea, I, Wu, K, Bakey, Z, Haarman, E G, Daniels, J M A, Sistermans, E A, Bogunovic, N, Dougherty, G W, Höben, I M, Große-Onnebrink, J, Matter, A, Olbrich, H, Werner, C, Pals, G, Schmidts, M, Omran, H & Micha, D 2017, 'Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects', American journal of human genetics, vol. 100, no. 1, pp. 160-168. https://doi.org/10.1016/j.ajhg.2016.11.019
American Journal of Human Genetics, 100, 1, pp. 160-168
The American Journal of Human Genetics
Paff,
American Journal of Human Genetics, 100, 1, pp. 160-168
The American Journal of Human Genetics
Academic Journal
Wallmeier, Julia; Shiratori, Hidetaka; Dougherty, Gerard W.; Edelbusch, Christine; Hjeij, Rim; Loges, Niki T.; Menchen, Tabea; Olbrich, Heike; Pennekamp, Petra; Raidt, Johanna; Werner, Claudius; Minegishi, Katsura; Shinohara, Kyosuke; Asai, Yasuko; Takaoka, Katsuyoshi; Lee, Chanjae; Griese, Matthias; Memari, Yasin; Durbin, Richard; Kolb-Kokocinski, Anja; Sauer, Sascha; Wallingford, John B.; Hamada, Hiroshi; Omran, Heymut
The American Journal of Human Genetics. 99:460-469
Academic Journal
Olbrich, Heike ; Schmidts, Miriam ; Werner, Claudius ; Onoufriadis, Alexandros ; Loges, Niki T. ; Raidt, Johanna ; Banki, Nora Fanni ; Shoemark, Amelia ; Burgoyne, Tom ; Al Turki, Saeed ; Hurles, Matthew E. ; Köhler, Gabriele ; Schroeder, Josef ; Nürnberg, Gudrun ; Nürnberg, Peter ; Chung, Eddie M.K. ; Reinhardt, Richard ; Marthin, June K. ; Nielsen, Kim G. ; Mitchison, Hannah M. ; Omran, Heymut
In The American Journal of Human Genetics 5 October 2012 91(4):672-684
Academic Journal
Knowles, Michael R.; Ostrowski, Lawrence E.; Loges, Niki T.; Hurd, Toby; Leigh, Margaret W.; Huang, Lu; Wolf, Whitney E.; Carson, Johnny L.; Hazucha, Milan J.; Yin, Weining; Davis, Stephanie D.; Dell, Sharon D.; Ferkol, Thomas W.; Sagel, Scott D.; Olivier, Kenneth N.; Jahnke, Charlotte; Olbrich, Heike; Werner, Claudius; Raidt, Johanna; Wallmeier, Julia; Pennekamp, Petra; Dougherty, Gerard W.; Hjeij, Rim; Gee, Heon Yung; Otto, Edgar A.; Halbritter, Jan; Chaki, Moumita; Diaz, Katrina A.; Braun, Daniela A.; Porath, Jonathan D.; Schueler, Markus; Baktai, György; Griese, Matthias; Turner, Emily H.; Lewis, Alexandra P.; Bamshad, Michael J.; Nickerson, Deborah A.; Hildebrandt, Friedhelm; Shendure, Jay; Omran, Heymut; Zariwala, Maimoona A.
American Journal of Human Genetics
Academic Journal
Hjeij, Rim ; Onoufriadis, Alexandros ; Watson, Christopher M. ; Slagle, Christopher E. ; Klena, Nikolai T. ; Dougherty, Gerard W. ; Kurkowiak, Małgorzata ; Loges, Niki T. ; Diggle, Christine P. ; Morante, Nicholas F.C. ; Gabriel, George C. ; Lemke, Kristi L. ; Li, You ; Pennekamp, Petra ; Menchen, Tabea ; Konert, Franziska ; Marthin, June Kehlet ; Mans, Dorus A. ; Letteboer, Stef J.F. ; Werner, Claudius ; Burgoyne, Thomas ; Westermann, Cordula ; Rutman, Andrew ; Carr, Ian M. ; O’Callaghan, Christopher ; Moya, Eduardo ; Chung, Eddie M.K. ; Sheridan, Eamonn ; Nielsen, Kim G. ; Roepman, Ronald ; Bartscherer, Kerstin ; Burdine, Rebecca D. ; Lo, Cecilia W. ; Omran, Heymut ; Mitchison, Hannah M.
In The American Journal of Human Genetics 4 September 2014 95(3):257-274
Academic Journal
Austin-Tse, Christina; Halbritter, Jan; Zariwala, Maimoona A.; Gilberti, Renée M.; Gee, Heon Yung; Hellman, Nathan; Pathak, Narendra; Liu, Yan; Panizzi, Jennifer R.; Patel-King, Ramila S.; Tritschler, Douglas; Bower, Raqual; O’Toole, Eileen; Porath, Jonathan D.; Hurd, Toby W.; Chaki, Moumita; Diaz, Katrina A.; Kohl, Stefan; Lovric, Svjetlana; Hwang, Daw-Yang; Braun, Daniela A.; Schueler, Markus; Airik, Rannar; Otto, Edgar A.; Leigh, Margaret W.; Noone, Peadar G.; Carson, Johnny L.; Davis, Stephanie D.; Pittman, Jessica E.; Ferkol, Thomas W.; Atkinson, Jeffry J.; Olivier, Kenneth N.; Sagel, Scott D.; Dell, Sharon D.; Rosenfeld, Margaret; Milla, Carlos E.; Loges, Niki T.; Omran, Heymut; Porter, Mary E.; King, Stephen M.; Knowles, Michael R.; Drummond, Iain A.; Hildebrandt, Friedhelm
American Journal of Human Genetics
Academic Journal
Olbrich, Heike ; Cremers, Carolin ; Loges, Niki T. ; Werner, Claudius ; Nielsen, Kim G. ; Marthin, June K. ; Philipsen, Maria ; Wallmeier, Julia ; Pennekamp, Petra ; Menchen, Tabea ; Edelbusch, Christine ; Dougherty, Gerard W. ; Schwartz, Oliver ; Thiele, Holger ; Altmüller, Janine ; Rommelmann, Frank ; Omran, Heymut
In The American Journal of Human Genetics 1 October 2015 97(4):546-554
Academic Journal
Zariwala, Maimoona A.; Gee, Heon Yung; Kurkowiak, Małgorzata; Al-Mutairi, Dalal A.; Leigh, Margaret W.; Hurd, Toby W.; Hjeij, Rim; Dell, Sharon D.; Chaki, Moumita; Dougherty, Gerard W.; Adan, Mohamed; Spear, Philip C.; Esteve-Rudd, Julian; Loges, Niki T.; Rosenfeld, Margaret; Diaz, Katrina; Olbrich, Heike; Wolf, Whitney E.; Sheridan, Eamonn; Batten, Trevor F.C.; Halbritter, Jan; Porath, Jonathan D.; Kohl, Stefan; Lovric, Svjetlana; Hwang, Daw-Yang; Pittman, Jessica E.; Burns, Kimberlie A.; Ferkol, Thomas W.; Sagel, Scott D.; Olivier, Kenneth N.; Morgan, Lucy C.; Werner, Claudius; Raidt, Johanna; Pennekamp, Petra; Sun, Zhaoxia; Zhou, Weibin; Airik, Rannar; Natarajan, Sivakumar; Allen, Susan J.; Amirav, Israel; Wieczorek, Dagmar; Landwehr, Kerstin; Nielsen, Kim; Schwerk, Nicolaus; Sertic, Jadranka; Köhler, Gabriele; Washburn, Joseph; Levy, Shawn; Fan, Shuling; Koerner-Rettberg, Cordula; Amselem, Serge; Williams, David S.; Mitchell, Brian J.; Drummond, Iain A.; Otto, Edgar A.; Omran, Heymut; Knowles, Michael R.; Hildebrandt, Friedhelm
American Journal of Human Genetics
Academic Journal
Asaf Ta-Shma; Rim Hjeij; Zeev Perles; Gerard W Dougherty; Ibrahim Abu Zahira; Stef J F Letteboer; Dinu Antony; Alaa Darwish; Dorus A Mans; Sabrina Spittler; Christine Edelbusch; Sandra Cindrić; Tabea Nöthe-Menchen; Heike Olbrich; Friederike Stuhlmann; Isabella Aprea; Petra Pennekamp; Niki T Loges; Oded Breuer; Avraham Shaag; Azaria J J T Rein; Elif Yilmaz Gulec; Alper Gezdirici; Revital Abitbul; Nael Elias; Israel Amirav; Miriam Schmidts; Ronald Roepman; Orly Elpeleg; Heymut Omran
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
Academic Journal
van den Bruck, Rhea; Weil, Patrick P.; Ziegenhals, Thomas; Schreiner, Philipp; Juranek, Stefan; Gödde, Daniel; Vogel, Silvia; Schuster, Frauke; Orth, Valerie; Dörner, Johannes; Pembaur, Daniel; Röper, Meike; Störkel, Stefan; Zirngibl, Hubert; Wirth, Stefan; Jenke, Andreas C. W.; Postberg, Jan; Boy, Nikolas; Heringer, Jana; Haege, Gisela; Glahn, Esther M.; Hoffmann, Georg F.; Garbade, Sven F.; Burgard, Peter; Kölker, Stefan; Chao, Cho-Ming; Yahya, Faady; Moiseenko, Alena; Shrestha, Amit; Ahmadvand, Negah; Quantius, Jennifer; Wilhelm, Jochen; El-Agha, Elie; Zimmer, Klaus-Peter; Bellusci, Saverio; Staufner, Christian; Kölker, Stefan; Prokisch, Holger; Hoffmann, Georg F.; Seeliger, Stephan; Müller, Matthias; Hippe, Andreas; Steinkraus, Henrik; Wauer, Roland; Lachmann, Burkhard; Hofmann, Sigrun R.; Hedrich, Christian M.; Zierk, Jakob; Arzideh, Farhad; Haeckel, Rainer; Rascher, Wolfgang; Rauh, Manfred; Metzler, Markus; Thieme, Sebastian; Bandoła, Joanna; Richter, Cornelia; Ryser, Martin; Jamal, Arshad; Ashton, Michelle P.; von Bonin, Malte; Kuhn, Matthias; Hedrich, Christian M.; Bonifacio, Ezio; Berner, Reinhard; Brenner, Sebastian; Hammersen, Johanna; Has, Cristina; Naumann-Bartsch, Nora; Stachel, Daniel; Kiritsi, Dimitra; Söder, Stephan; Tardieu, Mathilde; Metzler, Markus; Bruckner-Tuderman, Leena; Schneider, Holm; Bohne, F.; Langer, D.; Cencic, R.; Eggermann, T.; Zechner, U.; Pelletier, J.; Zepp, F.; Enklaar, T.; Prawitt, D.; Pech, Martin; Weckmann, Markus; Heinsen, Femke-Anouska; Franke, Andre; Happle, Christine; Dittrich, Anna-Maria; Hansen, Gesine; Fuchs, Oliver; von Mutius, Erika; Oliver, Brian G.; Kopp, Matthias V.; Paret, Claudia; Russo, Alexandra; Theruvath, Johanna; Keller, Bettina; El Malki, Khalifa; Lehmann, Nadine; Wingerter, Arthur; Neu, Marie A.; Aslihan, Gerhold-Ay; Wagner, Wolfgang; Sommer, Clemens; Pietsch, Torsten; Seidmann, Larissa; Faber, Jörg; Schreiner, Felix; Ackermann, Merle; Michalik, Michael; Rother, Eva; Bilkei-Gorzo, Andras; Racz, Ildiko; Bindila, Laura; Lutz, Beat; Dötsch, Jörg; Zimmer, Andreas; Woelfle, Joachim; Fischer, Hendrik S.; Ullrich, Tim L.; Bührer, Christoph; Czernik, Christoph; Schmalisch, Gerd; Stein, Robert; Hofmann, Sigrun R.; Hagenbuchner, Judith; Kiechl-Kohlendorfer, Ursula; Obexer, Petra; Ausserlechner, Michael J.; Loges, Niki T.; Frommer, Adrien Tobias; Wallmeier, Julia; Omran, Heymut; Öner-Sieben, Soner; Gimpfl, Martina; Rozman, Jan; Irmler, Martin; Beckers, Johannes; De Angelis, Martin Hrabe; Roscher, Adelbert; Wolf, Eckhard; Ensenauer, Regina; Nemes, Karolina; Frühwald, Michael; Hasselblatt, Martin; Siebert, Reiner; Kordes, Uwe; Kool, Marcel; Wang, Haicui; Hardy, Holly; Refai, Osama; Barwick, Katy E. S.; Zimmerman, Holly H.; Weis, Joachim; Baple, Emma L.; Crosby, Andrew H.; Cirak, Sebahattin; Hellmuth, C.; Uhl, O.; Standl, M.; Heinrich, J.; Thiering, E.; Koletzko, B.; Blümel, Lena; Kerl, Kornelius; Picard, Daniel; Frühwald, Michael C.; Liebau, Max C.; Reifenberger, Guido; Borkhardt, Arndt; Hasselblatt, Martin; Remke, Marc; Tews, D.; Wabitsch, M.; Fischer-Posovszky, P.; Westhoff, Mike-Andrew; Nonnenmacher, Lisa; Langhans, Julia; Schneele, Lukas; Trenkler, Nancy; Debatin, Klaus-Michael
Molecular and Cellular Pediatrics. May 2017 4(1):1-9
Academic Journal
Hjeij, Rim; Lindstrand, Anna; Francis, Richard; Zariwala, Maimoona A.; Liu, Xiaoqin; Li, You; Damerla, Rama; Dougherty, Gerard W.; Abouhamed, Marouan; Olbrich, Heike; Loges, Niki T.; Pennekamp, Petra; Davis, Erica E.; Carvalho, Claudia M.B.; Pehlivan, Davut; Werner, Claudius; Raidt, Johanna; Köhler, Gabriele; Häffner, Karsten; Reyes-Mugica, Miguel; Lupski, James R.; Leigh, Margaret W.; Rosenfeld, Margaret; Morgan, Lucy C.; Knowles, Michael R.; Lo, Cecilia W.; Katsanis, Nicholas; Omran, Heymut
American Journal of Human Genetics
Academic Journal
Wirschell, Maureen; Olbrich, Heike; Werner, Claudius; Tritschler, Douglas; Bower, Raqual; Sale, Winfield S.; Loges, Niki T.; Pennekamp, Petra; Lindberg, Sven; Stenram, Unne; Carlén, Birgitta; Horak, Elisabeth; Koehler, Gabriele; Nuernberg, Peter; Nuernberg, Gudrun; Porter, Mary E.; Omran, Heymut
Nature Genetics. 45(3):262-268
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