학술논문
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'학술논문'
에서 검색결과 380건 | 목록
1~20
Academic Journal
Sorber, Rebecca; Byers, Peter H.; Schwarze, Ulrike; Buber, Yonatan; Kirkpatrick, James N.; Otto, Catherine M.; DeRoo, Scott C.; Zettervall, Sara L.; Burke, Christopher R.; Sweet, Matthew P.
Seminars in Vascular Surgery. 38(4):347-354
Academic Journal
Burke, Christopher R., MD; Sweet, Matthew P., MD; DeGraaff, Bret, MD; Dhanekula, Arjune, MD; Tugan, Dariga, RN; Flodin, Rachel, MS; Otto, Catherine M., MD; Buber, Jonathan, MD; Byers, Peter H., MD; Schwarze, Ulrike, MD; Upson, Melissa, PA; Zettervall, Sara L., MD, MPH; DeRoo, Scott, MD
JTCVS Open. 29
Academic Journal
Murdock, David R.; Guo, Dong-chuan; DePaolo, John S.; Schwarze, Ulrike; Duan, Xue-yan; Cecchi, Alana C.; Marin, Isabella C.; Tang, YingYing; Chong, Jessica X.; Bamshad, Michael J.; Leppig, Kathleen A.; Byers, Peter H.; Damrauer, Scott M.; Milewicz, Dianna M.
npj Genomic Medicine. 10(1)
Academic Journal
Vollger, Mitchell R.; Korlach, Jonas; Eldred, Kiara C.; Swanson, Elliott; Underwood, Jason G.; Bohaczuk, Stephanie C.; Mao, Yizi; Cheng, Yong-Han H.; Ranchalis, Jane; Blue, Elizabeth E.; Schwarze, Ulrike; Munson, Katherine M.; Saunders, Christopher T.; Wenger, Aaron M.; Allworth, Aimee; Chanprasert, Sirisak; Duerden, Brittney L.; Glass, Ian; Horike-Pyne, Martha; Kim, Michelle; Leppig, Kathleen A.; McLaughlin, Ian J.; Ogawa, Jessica; Rosenthal, Elisabeth A.; Sheppeard, Sam; Sherman, Stephanie M.; Strohbehn, Samuel; Yuen, Amy L.; Stacey, Andrew W.; Reh, Thomas A.; Byers, Peter H.; Bamshad, Michael J.; Hisama, Fuki M.; Jarvik, Gail P.; Sancak, Yasemin; Dipple, Katrina M.; Stergachis, Andrew B.
Nature Genetics. 57(2):469-479
Academic Journal
Adamo, Christin S; Beyens, Aude; Schiavinato, Alvise; Keene, Douglas R; Tufa, Sara F; Mörgelin, Matthias; Brinckmann, Jürgen; Sasaki, Takako; Niehoff, Anja; Dreiner, Maren; Pottie, Lore; Muiño-Mosquera, Laura; Gulec, Elif Yilmaz; Gezdirici, Alper; Braghetta, Paola; Bonaldo, Paolo; Wagener, Raimund; Paulsson, Mats; Bornaun, Helen; De Rycke, Riet; De Bruyne, Michiel; Baeke, Femke; Devine, Walter P; Gangaram, Balram; Tam, Allison; Balasubramanian, Meena; Ellard, Sian; Moore, Sandra; Symoens, Sofie; Shen, Joseph; Cole, Stacey; Schwarze, Ulrike; Holmes, Kathryn W; Hayflick, Susan J; Wiszniewski, Wojciech; Nampoothiri, Sheela; Davis, Elaine C; Sakai, Lynn Y; Sengle, Gerhard; Callewaert, Bert
American journal of human genetics, vol 109, iss 12
AMERICAN JOURNAL OF HUMAN GENETICS
AMERICAN JOURNAL OF HUMAN GENETICS
Academic Journal
Shalhub, Sherene, MD, MPH, FACS, DFSVS; Nkansah, Reginald, MD; El-Ghazali, Asmaa, MD; Hillenbrand, Charles J., MD; Vaidya, Sandeep S., MBBS; Schwarze, Ulrike, MD; Byers, Peter H., MD
Journal of Vascular Surgery. 78(2):394-404
Academic Journal
Nicolas A. Stafforini, MD; Nallely Saldana-Ruiz, MD, MPH; Scott DeRoo, MD; Ulrike Schwarze, MD; Matthew P. Sweet, MD; Sara L. Zettervall, MD, MPH
Journal of Vascular Surgery Cases and Innovative Techniques, Vol 10, Iss 4, Pp 101519- (2024)
Academic Journal
Pujol‐Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E.; Albano, Giuseppe; Miller, Danny E.; Allworth, Aimee; Bennett, James T.; Byers, Peter H.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Gillentine, Madelyn A.; Glass, Ian; Hing, Anne; Horike‐Pyne, Martha; Leppig, Kathleen A.; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Timms, Andrew; Wener, Mark; Bamshad, Michael J.; Leal, Suzanne M.; Nickerson, Deborah A.; Anderson, Peter; Bacus, Tamara J.; Brower, Katherine; Buckingham, Kati J.; Chong, Jessica X.; Sánchez, Diana Cornejo; Davis, Colleen P.; Davis, Chayna J.; Frazar, Christian D.; Gomeztagle‐Burgess, Katherine; Gordon, William W.; Hurless, Jameson R.; Jarvik, Gail P.; Johanson, Eric; Kolar, J. Thomas; Marvin, Colby T.; Mcgee, Sean; Mcgoldrick, Daniel J.; Mekonnen, Betselote; Nielsen, Patrick M.; Patterson, Karynne; Radhakrishnan, Aparna; Richardson, Matthew A.; Roote, Gwendolin T.; Ryke, Erica L.; Schrauwen, Isabelle; Shively, Kathryn M.; Smith, Joshua D.; Tackett, Monica; Wang, Gao; Weiss, Jeffrey M.; Wheeler, Marsha M.; Yi, Qian; Zhang, Xiaohong; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg‐Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chao, Hsiao‐Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D' Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden‐Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Leblanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Maghiro, Audreystephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mccauley, Jacob; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee‐Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika W.; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Dipple, Katrina M.; Hediger, Matthias A.; Stergachis, Andrew B.
Annals of Clinical and Translational Neurology. June, 2023, Vol. 10 Issue 6, p1046, 1053 p.
Academic Journal
Peter Schlattmann; Thomas Lehmann; Tim Rahmel; Johannes Roth; Peter Kranke; Frank M Brunkhorst; Andreas Greinacher; Patrick Meybohm; Philipp Helmer; Stefan Hagel; Florian Rißner; Michael Bauer; Matthias Gründling; Sven-Olaf Kuhn; Christian Fuchs; Luis Ferreira Moita; Frank Bloos; Matthias Michael; Ulrike Schumacher; Matthias Unterberg; Daniel Thomas-Rüddel; Christiane Helbig; Johannes Ehler; Heiko Schenk; Thomas Köcher; Markus Gräler; Ann-Julika Heger; Sebastian Weis; Karen Dlubatz; Jakob Hammersen; Katja Leonhardt; René Markgraf; Franziska Röstel; Nicole Schwarze; Mariann Städtler; Wolfgang Vivas-Varela; Andre Hagedorn; Andrea Wittkowski; Florian Rumpf; Tobias Haas; Sebastian Hottenrott; Eva Kranke; Marianne Neuf; Anke Reppchen; Daniel Röder; Julius Schmidt
BMJ Open, Vol 14, Iss 4 (2024)
Academic Journal
Genetics in Medicine Open. 2
Academic Journal
Elizabeth E. Blue; Samuel J. Huang; Alyna Khan; Katie Golden-Grant; Brenna Boyd; Elisabeth A. Rosenthal; Madelyn A. Gillentine; Leah R. Fleming; David R. Adams; Lynne Wolfe; Aimee Allworth; Michael J. Bamshad; Nikeisha J. Caruana; Sirisak Chanprasert; Jingheng Chen; Nitsuh Dargie; Daniel Doherty; Marisa W. Friederich; Fuki M. Hisama; Martha Horike-Pyne; Jessica C. Lee; Tonia E. Donovan; Daniella H. Hock; Kathleen A. Leppig; Danny E. Miller; Ghayda Mirzaa; Jane Ranchalis; Wendy H. Raskind; Cole R. Michel; Richard Reisdorph; Ulrike Schwarze; Sam Sheppeard; Samuel Strohbehn; David A. Stroud; Virginia P. Sybert; Mark H. Wener; Andrew B. Stergachis; Christina T. Lam; Gail P. Jarvik; Katrina M. Dipple; Johan L.K. Van Hove; Ian A. Glass
Rare, Vol 2, Iss , Pp 100040- (2024)
Academic Journal
Akilesh, Shreeram ; Nast, Cynthia C. ; Yamashita, Michifumi ; Henriksen, Kammi ; Charu, Vivek ; Troxell, Megan L. ; Kambham, Neeraja ; Bracamonte, Erika ; Houghton, Donald ; Ahmed, Naila I. ; Chong, Chyi Chyi ; Thajudeen, Bijin ; Rehman, Shehzad ; Khoury, Firas ; Zuckerman, Jonathan E. ; Gitomer, Jeremy ; Raguram, Parthassarathy C. ; Mujeeb, Shanza ; Schwarze, Ulrike ; Shannon, M. Brendan ; De Castro, Iris ; Alpers, Charles E. ; Najafian, Behzad ; Nicosia, Roberto F. ; Andeen, Nicole K. ; Smith, Kelly D.
In American Journal of Kidney Diseases January 2021 77(1):82-93
Academic Journal
Benedikt Schwarze; Alexander Korn; Corinna Höfling; Ulrike Zeitschel; Martin Krueger; Steffen Roßner; Daniel Huster
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Academic Journal
Duong, June ; Rideout, Andrea ; MacKay, Sara ; Beis, Jill ; Parkash, Sandhya ; Schwarze, Ulrike ; Horne, S. Gabrielle ; Vandersteen, Anthony
In European Journal of Medical Genetics February 2020 63(2)
Academic Journal
Papadopoulos, Nikolaos G; Agache, Ioana; Bavbek, Sevim; Bilo, Beatrice M; Braido, Fulvio; Cardona, Victoria; Custovic, Adnan; Demonchy, Jan; Demoly, Pascal; Eigenmann, Philippe; Gayraud, Jacques; Grattan, Clive; Heffler, Enrico; Hellings, Peter W; Jutel, Marek; Knol, Edward; Lötvall, Jan, 1956; Muraro, Antonella; Poulsen, Lars K; Roberts, Graham; Schmid-Grendelmeier, Peter; Skevaki, Chrysanthi; Triggiani, Massimo; Vanree, Ronald; Werfel, Thomas; Flood, Breda; Palkonen, Susanna; Savli, Roberta; Allegri, Pia; Annesi-Maesano, Isabella; Annunziato, Francesco; Antolin-Amerigo, Dario; Apfelbacher, Christian; Blanca, Miguel; Bogacka, Ewa; Bonadonna, Patrizia; Bonini, Matteo; Boyman, Onur; Brockow, Knut; Burney, Peter; Buters, Jeroen; Butiene, Indre; Calderon, Moises; Cardell, Lars Olaf; Caubet, Jean-Christoph; Celenk, Sevcan; Cichocka-Jarosz, Ewa; Cingi, Cemal; Couto, Mariana; Dejong, Nicolette; Del Giacco, Stefano; Douladiris, Nikolaos; Fassio, Filippo; Fauquert, Jean-Luc; Fernandez, Javier; Rivas, Montserrat Fernandez; Ferrer, Marta; Flohr, Carsten; Gardner, James; Genuneit, Jon; Gevaert, Philippe; Groblewska, Anna; Hamelmann, Eckard; Hoffmann, Hans Jürgen; Hoffmann-Sommergruber, Karin; Hovhannisyan, Lilit; Hox, Valérie; Jahnsen, Frode L; Kalayci, Omer; Kalpaklioglu, Ayse Füsun; Kleine-Tebbe, Jörg; Konstantinou, George; Kurowski, Marcin; Lau, Susanne; Lauener, Roger; Lauerma, Antti; Logan, Kirsty; Magnan, Antoine; Makowska, Joanna; Makrinioti, Heidi; Mangina, Paraskevi; Manole, Felicia; Mari, Adriano; Mazon, Angel; Mills, Clare; Mingomataj, Ervinç; Niggemann, Bodo; Nilsson, Gunnar; Ollert, Markus; O'Mahony, Liam; O'Neil, Serena, 1981; Pala, Gianni; Papi, Alberto; Passalacqua, Gianni; Perkin, Michael; Pfaar, Oliver; Pitsios, Constantinos; Quirce, Santiago; Raap, Ulrike; Raulf-Heimsoth, Monika; Rhyner, Claudio; Robson-Ansley, Paula; Alves, Rodrigo Rodrigues; Roje, Zeljka; Rondon, Carmen; Rudzeviciene, Odilija; Ruëff, Franziska; Rukhadze, Maia; Rumi, Gabriele; Sackesen, Cansin; Santos, Alexandra F; Santucci, Annalisa; Scharf, Christian; Schmidt-Weber, Carsten; Schnyder, Benno; Schwarze, Jürgen; Senna, Gianenrico; Sergejeva, Svetlana, 1972; Seys, Sven; Siracusa, Andrea; Skypala, Isabel; Sokolowska, Milena; Spertini, Francois; Spiewak, Radoslaw; Sprikkelman, Aline; Sturm, Gunter; Swoboda, Ines; Terreehorst, Ingrid; Toskala, Elina; Traidl-Hoffmann, Claudia; Venter, Carina; Vlieg-Boerstra, Berber; Whitacker, Paul; Worm, Margitta; Xepapadaki, Paraskevi; Akdis, Cezmi A
Clinical and translational allergy. 2(1)
Academic Journal
Fischer-Zirnsak, Björn; Escande-Beillard, Nathalie; Ganesh, Jaya; Tan, Yu Xuan; Al Bughaili, Mohammed; Lin, Angela E; Sahai, Inderneel; Bahena, Paulina; Reichert, Sara L; Loh, Abigail; Wright, Graham D; Liu, Jaron; Rahikkala, Elisa; Pivnick, Eniko K; Choudhri, Asim F; Krüger, Ulrike; Zemojtel, Tomasz; van Ravenswaaij-Arts, Conny; Mostafavi, Roya; Stolte-Dijkstra, Irene; Symoens, Sofie; Pajunen, Leila; Al-Gazali, Lihadh; Meierhofer, David; Robinson, Peter N; Mundlos, Stefan; Villarroel, Camilo E; Byers, Peter; Masri, Amira; Robertson, Stephen P; Schwarze, Ulrike; Callewaert, Bert; Reversade, Bruno; Kornak, Uwe
The American Journal of Human Genetics. 97:483-492
Academic Journal
Cundy, Tim; Dray, Michael; Delahunt, John; Hald, Jannie Dahl; Langdahl, Bente; Li, Chumei; Szybowska, Marta; Mohammed, Shehla; Duncan, Emma L; Mcinerney-Leo, Aideen M; Wheeler, Patricia G; Roschger, Paul; Klaushofer, Klaus; Rai, Jyoti; Weis, Maryann; Eyre, David; Schwarze, Ulrike; Byers, Peter H
Cundy, T, Dray, M, Delahunt, J, Hald, J D, Langdahl, B, Li, C, Szybowska, M, Mohammed, S, Duncan, E L, McInerney-Leo, A M, Wheeler, P G, Roschger, P, Klaushofer, K, Rai, J, Weis, M, Eyre, D, Schwarze , U & Byers, P H 2018, 'Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype', Journal of Bone and Mineral Research, vol. 33, no. 7, pp. 1260-1271. https://doi.org/10.1002/jbmr.3424
Academic Journal
Chamberlain, Joel R.; Schwarze, Ulrike; Wang, Pei-Rong; Hirata, Roli K.; Hankenson, Kurt D.; Pace, James M.; Underwood, Robert A.; Song, Kit M.; Sussman, Michael; Byers, Peter H.; Russell, David W.
Science, 2004 Feb . 303(5661), 1198-1201.
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