학술논문
'학술논문'
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1~10
Academic Journal
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; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; 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; Doherty, Daniel; 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.; Glass, Ian; 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; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; 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, Audrey Stephannie; 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; Mirzaa, Ghayda; 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 III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; 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; Seto, Elaine; 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.; Tarakad, Arjun; 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; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Guillen Sacoto, Maria J.; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S.A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Academic Journal
Blackburn, Alexandria T. M.; Bekheirnia, Nasim; Uma, Vanessa C.; Corkins, Mark E.; Xu, Yuxiao; Rosenfeld, Jill A.; Bainbridge, Matthew N.; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R.; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G.; Al-Gazali, Lihadh; Mohamed Saeed Mohamed Al Shamsi, Aisha; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M.; Scheuerle, Angela E.; Kukolich, Mary K.; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C.; Lamb, Dolores J.; Miller, Rachel K.; Bekheirnia, Mir Reza
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2755-2764
Academic Journal
Stegmann, J.D.; Kalanithy, J.C.; Dworschak, G.C.; Ishorst, N.; Reutter, H.; Mingardo, E.; Channab, K.; Odermatt, B.; Lindenberg, T.T.; Yilmaz, Ö.; Lopes, F.M.; Ho, Y.M.; Woolf, A.S.; Grote, P.; Seltzsam, S.; Shril, S.; Hildebrandt, F.; Boschann, F.; Heinen, A.; Jolly, A.; Bekheirnia, M.R.; Posey, J.E.; Lupski, J.R.; Myers, K.; McBride, K.; Bekheirnia, N.; Scala, M.; Morleo, M.; Nigro, V.; Torella, A.; Pinelli, M.; Capra, V.; Accogli, A.; Maitz, S.; Spano, A.; Olson, R.J.; Klee, E.W.; Lanpher, B.C.; Jang, S.S.; Chae, J.-H.; Steinbauer, P.; Rieder, D.; Janecke, A.R.; Vodopiutz, J.; Vogel, I.; Blechingberg, J.; Cohen, J.L.; Riley, K.; Klee, V.; Walsh, L.E.; Begemann, M.; Elbracht, M.; Eggermann, T.; Stoppe, A.; Stuurman, K.; van Slegtenhorst, M.; Barakat, T.S.; Mulhern, M.S.; Sands, T.T.; Cytrynbaum, C.; Weksberg, R.; Isidori, F.; Pippucci, T.; Severi, G.; Montanari, F.; Kruer, M.C.; Bakhtiari, S.; Darvish, H.; Hagelueken, G.; Geyer, M.; Hilger, A.C.
In: npj Genomic Medicine . (npj Genomic Medicine, December 2024, 9(1))
Academic Journal
Paul, M.S.; Michener, S.L.; Pfliger, J.M.; Lerma, V.C.; Longley, M.A.; Koh, H.Y.; Chao, H.-T.; Pan, H.; Chan, H.; Rosenfeld, J.A.; Tran, A.; Lewis, R.A.; Weisz-Hubshman, M.; Bekheirnia, M.R.; Bacino, C.A.; Lee, B.H.; Bekheirnia, N.; Massingham, L.; Zech, M.; Wagner, M.; Cremer, K.; Mangold, E.; Peters, S.; Trautmann, J.; Engels, H.; Mester, J.L.; Guillen Sacoto, M.J.; Person, R.; McDonnell, P.P.; Cohen, S.R.; Lusk, L.; Cohen, A.S.A.; Pastinen, T.; Le Pichon, J.-B.; Zhou, D.; Engleman, K.; Racine, C.; Denommé-Pichon, A.-S.; Faivre, L.; Moutton, S.; Poduri, A.; Bolton, J.; Knopp, C.; Julia Suh, D.S.; Maier, A.; Toosi, M.B.; Karimiani, E.G.; Maroofian, R.; Schaefer, G.B.; Ramakumaran, V.; Vasudevan, P.; Prasad, C.; Osmond, M.; Schuhmann, S.; Vasileiou, G.; Russ-Hall, S.; Scheffer, I.E.; Carvill, G.L.; Mefford, H.; Acosta, M.T.; Adam, M.; Adams, D.R.; Alvarez, R.L.; Alvey, J.; Amendola, L.; Andrews, A.; Ashley, E.A.; Bademci, G.; Balasubramanyam, A.; Baldridge, D.; Bale, J.; Bamshad, M.; Barbouth, D.; Bayrak-Toydemir, P.; Beck, A.; Beggs, A.H.; Behrens, E.; Bejerano, G.; Bellen, H.J.; Bennett, J.; Berg-Rood, B.; Bernstein, J.A.; Berry, G.T.; Bican, A.; Bivona, S.; Blue, E.; Bohnsack, J.; Bonner, D.; Botto, L.; Boyd, B.; Briere, L.C.; Brown, G.; Burke, E.A.; Burrage, L.C.; Butte, M.J.; Byers, P.; Byrd, W.E.; Carey, J.; Carrasquillo, O.; Cassini, T.; Chang, T.C.P.; Chanprasert, S.; Chinn, I.; Clark, G.D.; Coakley, T.R.; Cobban, L.A.; Cogan, J.D.; Coggins, M.; Cole, F.S.; Colley, H.A.; Cope, H.; Corona, R.; Craigen, W.J.; Crouse, A.B.; Cunningham, M.; D'Souza, P.; Dai, H.; Dasari, S.; Davis, J.; Dayal, J.G.; Dell'Angelica, E.C.; Dipple, K.; Doherty, D.; Dorrani, N.; Doss, A.L.; Douine, E.D.; Earl, D.; Eckstein, D.J.; Emrick, L.T.; Eng, C.M.; Falk, M.; Fieg, E.L.; Fisher, P.G.; Fogel, B.L.; Forghani, I.; Gahl, W.A.; Glass, I.; Gochuico, B.; Goddard, P.C.; Godfrey, R.A.; Golden-Grant, K.; Grajewski, A.; Hadley, D.; Hahn, S.; Halley, M.C.; Hamid, R.; Hassey, K.; Hayes, N.; High, F.; Hing, A.; Hisama, F.M.; Holm, I.A.; Hom, J.; Horike-Pyne, M.; Huang, A.; Hutchison, S.; Introne, W.; Isasi, R.; Izumi, K.; Jamal, F.; Jarvik, G.P.; Jarvik, J.; Jayadev, S.; Jean-Marie, O.; Jobanputra, V.; Karaviti, L.; Ketkar, S.; Kiley, D.; Kilich, G.; Kobren, S.N.; Kohane, I.S.; Kohler, J.N.; Korrick, S.; Kozuira, M.; Krakow, D.; Krasnewich, D.M.; Kravets, E.; Lalani, S.R.; Lam, B.; Lam, C.; Lanpher, B.C.; Lanza, I.R.; LeBlanc, K.; Levitt, R.; Liu, P.; Liu, X.Z.; Longo, N.; Loo, S.K.; Loscalzo, J.; Maas, R.L.; Macnamara, E.F.; MacRae, C.A.; Maduro, V.V.; Maghiro, A.S.; Mahoney, R.; Malicdan, M.C.V.; Mamounas, L.A.; Manolio, T.A.; Mao, R.; Maravilla, K.; Marom, R.; Marth, G.; Martin, B.A.; Martin, M.G.; Martínez-Agosto, J.A.; Marwaha, S.; McCauley, J.; McConkie-Rosell, A.; McCray, A.T.; McGee, E.; Merritt, J.L.; Might, M.; Mirzaa, G.; Morava, E.; Moretti, P.; Mulvihill, J.; Nakano-Okuno, M.; Nelson, S.F.; Newman, J.H.; Nicholas, S.K.; Nickerson, D.; Nieves-Rodriguez, S.; Novacic, D.; Oglesbee, D.; Orengo, J.P.; Pace, L.; Pak, S.; Pallais, J.C.; Palmer, C.G.S.; Papp, J.C.; Parker, N.H.; Phillips III, J.A.; Posey, J.E.; Potocki, L.; Pusey Swerdzewski, B.N.; Quinlan, A.; Rao, D.A.; Raper, A.; Raskind, W.; Renteria, G.; Reuter, C.M.; Rives, L.; Robertson, A.K.; Rodan, L.H.; Rosenwasser, N.; Rossignol, F.; Ruzhnikov, M.; Sacco, R.; Sampson, J.B.; Saporta, M.; Schaechter, J.; Schedl, T.; Schoch, K.; Scott, D.A.; Scott, C.R.; Seto, E.; Shashi, V.; Shin, J.; Silverman, E.K.; Sinsheimer, J.S.; Sisco, K.; Smith, E.C.; Smith, K.S.; Solnica-Krezel, L.; Solomon, B.; Spillmann, R.C.; Stoler, J.M.; Sullivan, K.; Sullivan, J.A.; Sun, A.; Sutton, S.; Sweetser, D.A.; Sybert, V.; Tabor, H.K.; Tan, Q.K.-G.; Tan, A.L.M.; Tarakad, A.; Tekin, M.; Telischi, F.; Thorson, W.; Tifft, C.J.; Toro, C.; Tran, A.A.; Ungar, R.A.; Urv, T.K.; Vanderver, A.; Velinder, M.; Viskochil, D.; Vogel, T.P.; Wahl, C.E.; Walker, M.; Wallace, S.; Walley, N.M.; Wambach, J.; Wan, J.; Wang, L.-K.; Wangler, M.F.; Ward, P.A.; Wegner, D.; Weisz Hubshman, M.; Wener, M.; Wenger, T.; Westerfield, M.; Wheeler, M.T.; Whitlock, J.; Wolfe, L.A.; Worley, K.; Xiao, C.; Yamamoto, S.; Yang, J.; Zhang, Z.; Zuchner, S.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 4 January 2024, 111(1):96-118)
Academic Journal
Li, N.; Li, G.; Lin, J.; Wang, J.; Xu, Y.; Chen, H.; Chen, L.; Tang, J.; Yao, R.; Yu, T.; Shen, Y.; AlAbdi, L.; Bekheirnia, M.R.; Gofin, Y.; Machol, K.; Bekheirnia, N.; Faqeih, E.; Chang, G.; Wang, X.; Fu, W.; Fu, Q.; Alkuraya, F.S.
In: eBioMedicine . (eBioMedicine, January 2024, 99)
Academic Journal
Blackburn, Alexandria T. M.; Bekheirnia, Nasim; Uma, Vanessa C.; Corkins, Mark E.; Xu, Yuxiao; Rosenfeld, Jill A.; Bainbridge, Matthew N.; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R.; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G.; Al-Gazali, Lihadh; Shamsi, Aisha Mohamed Saeed Mohamed Al; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M.; Scheuerle, Angela E.; Kukolich, Mary K.; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C.; Lamb, Dolores J.; Miller, Rachel K.; Bekheirnia, Mir Reza
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(4):821-821
Academic Journal
Abdollah Shamshirsaz A.R; Bekheirnia M.R; Kamgar M; Tabatabaie S.M; Moradi Zirkuhi A; Bouzari N; Erfanzadeh G; Abdollah Shamshirsaz A.H.; Larijani B
Payesh, Vol 3, Iss 1, Pp 75-81 (2004)
Academic Journal
LeMaire, Scott A.; McDonald, Merry-Lynn N.; Guo, Dong-chuan; Russell, Ludivine; Miller, III, Charles C.; Johnson, Ralph J.; Bekheirnia, Mir Reza; Franco, Luis M.; Nguyen, Mary; Pyeritz, Reed E.; Bavaria, Joseph E.; Devereux, Richard; Maslen, Cheryl; Holmes, Kathryn W.; Eagle, Kim; Body, Simon C.; Seidman, Christine; Seidman, J.G.; Isselbacher, Eric M.; Bray, Molly; Coselli, Joseph S.; Estrera, Anthony L.; Safi, Hazim J.; Belmont, John W.; Milewicz, Dianna M.
Nature Genetics. October, 2011, Vol. 43 Issue 10, p996, 7 p.
Academic Journal
Alge, J.L.; Bekheirnia, N.; Braun, M.C.; Bekheirnia, M.R.; Willcockson, A.R.; Qin, X.; Scherer, S.E.
In: Pediatric Nephrology . (Pediatric Nephrology, March 2023, 38(3):687-695)
Academic Journal
Yang, Yaping; Muzny, Donna M.; Reid, Jeffrey G.; Bainbridge, Matthew N.; Willis, Alecia; Ward, Patricia A.; Braxton, Alicia; Beuten, Joke; Xia, Fan; Niu, Zhiyv; Hardison, Matthew; Person, Richard; Bekheirnia, Mir Reza; Leduc, Magalie S.; Kirby, Amelia; Pham, Peter; Scull, Jennifer; Wang, Min; Ding, Yan; Plon, Sharon E.; Lupski, James R.; Beaudet, Arthur L.; Gibbs, Richard A.; Eng, Christine M.
The New England Journal of Medicine. Oct 17, 2013 369(16):1502-1511
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