학술논문
'학술논문'
에서 검색결과 111건 | 목록
30~40
Periodical
Shashi, Vandana; Schoch, Kelly; Spillmann, Rebecca; Cope, Heidi; Tan, Queenie K.-G.; Walley, Nicole; Pena, Loren; McConkie-Rosell, Allyn; Jiang, Yong-Hui; Stong, Nicholas; Need, Anna C.; Goldstein, David B.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D’Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Herzog, Matthew R.; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren DM.; Phillips, John A.; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sweetser, David A.; Tan, Queenie K.-G.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison
Genetics in Medicine; January 2019, Vol. 21 Issue: 1 p161-172, 12p
Academic Journal
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; 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; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.; Undiagnosed Diseases Network
Academic Journal
Academic Journal
Kyle, Jennifer E.; Stratton, Kelly G.; Zink, Erika M.; Kim, Young-Mo; Bloodsworth, Kent J.; Monroe, Matthew E.; Bacino, Carlos A.; Hanchard, Neil A.; Lewis, Richard A.; Rosenfeld, Jill A.; Scott, Daryl A.; Tran, Alyssa A.; Ward, Patricia A.; Burrage, Lindsay C.; Clark, Gary D.; Alejandro, Mercedes E.; Posey, Jennifer E.; Wangler, Michael F.; Lee, Brendan H.; Craigen, William J.; Bellen, Hugo J.; Nicholas, Sarah K.; Bostwick, Bret L.; Samson, Susan L.; Goldman, Alica M.; Moretti, Paolo M.; Eng, Christine M.; Muzny, Donna M.; Orengo, James P.; Vogel, Tiphanie P.; Lalani, Seema R.; Murdock, David R.; Azamian, Mahshid S.; Orange, Jordan S.; Emrick, Lisa T.; Dhar, Shweta U.; Balasubramanyam, Ashok; Potocki, Lorraine; Yamamoto, Shinya; Yang, Yaping; Chen, Shan; Jamal, Fariha; Karaviti, Lefkothea; Marom, Ronit; Lincoln, Sharyn A.; Walsh, Chris A.; Beggs, Alan H.; Rodan, Lance H.; Stoler, Joan M.; Berry, Gerard T.; Cobban, Laurel A.; MacRae, Calum A.; Krier, Joel B.; Silverman, Edwin K.; Fieg, Elizabeth L.; Maas, Richard L.; Loscalzo, Joseph; Aday, Aaron; Korrick, Susan; Goldstein, David B.; Stong, Nicholas; Sullivan, Jennifer A.; Spillmann, Rebecca C.; Pena, Loren D. M.; Tan, Queenie K. -G.; Walley, Nicole M.; Jiang, Yong-hui; McConkie-Rosell, Allyn; Schoch, Kelly; Shashi, Vandana; Cope, Heidi; Holm, Ingrid A.; Kohane, Isaac S.; McCray, Alexa T.; Esteves, Cecilia; LeBlanc, Kimberly; Might, Matthew; Kelley, Emily; Worthey, Elizabeth A.; Dorset, Daniel C.; Boone, Braden E.; Levy, Shawn E.; Birch, Camille L.; Jones, Angela L.; Brown, Donna M.; Bick, David P.; Newberry, J. Scott; Lazar, Jozef; May, Thomas; Sweetser, David A.; Briere, Lauren C.; Pallais, J. Carl; Cooper, Cynthia M.; High, Frances; Walker, Melissa; Colley, Heather A.; Mamounas, Laura A.; Manolio, Teri A.; Burke, Elizabeth A.; Godfrey, Rena A.; Groden, Catherine A.; Gahl, William A.; Wolfe, Lynne A.; Markello, Thomas C.; Lau, C. Christopher; Draper, David D.; Gould, Sarah E.; Nehrebecky, Michele E.; Wahl, Colleen E.; Batzli, Gabriel F.; Macnamara, Ellen F.; Dayal, Jyoti G.; Eckstein, David J.; Mulvihill, John J.; Tifft, Cynthia J.; Urv, Tiina K.; Wise, Anastasia L.; Murphy, Jennifer L.; Gropman, Andrea L.; Howerton, Ellen M.; Krasnewich, Donna M.; Johnston, Jean M.; Pusey, Barbara N.; Adams, David R.; Maduro, Valerie V.; Malicdan, May Christine V.; Davids, Mariska; Estwick, Tyra; Novacic, Donna; Sharma, Prashant; Toro, Camilo; Yu, Guoyun; Behnam, Babak; D'Souza, Precilla; Ferreira, Carlos; Morimoto, Marie; Baker, Eva H.; Yang, John; Gourdine, Jean-Philippe F.; Brush, Matthew; Haendel, Melissa; Ashley, Euan A.; Bernstein, Jonathan A.; Sampson, Jacinda B.; Zastrow, Diane B.; Friedman, Noah D.; Merker, Jason D.; McCormack, Colleen E.; Fisher, Paul G.; Davidson, Jean M.; Dries, Annika M.; Enns, Gregory M.; Majcherska, Marta M.; Reuter, Chloe M.; Waggott, Daryl M.; Kohler, Jennefer N.; Coakley, Terra R.; Smith, Kevin S.; Wheeler, Matthew T.; Bonner, Devon; Fernandez, Liliana; Hom, Jason; Huang, Yong; Marwaha, Shruti; Zhao, Chunli; Martinez-Agosto, Julian A.; Dell'Angelica, Esteban C.; Papp, Jeanette C.; Douine, Emilie D.; Nelson, Stan F.; Martin, Martin G.; Palmer, Christina GS.; Parker, Neil H.; Butte, Manish J.; Yoon, Amanda J.; Loo, Sandra K.; Fogel, Brent L.; Dipple, Katrina M.; Sinsheimer, Janet S.; Allard, Patrick; Barseghyan, Hayk; Dorrani, Naghmeh; Lee, Hane; Vilain, Eric; Eskin, Ascia; Renteria, Genecee; Signer, Rebecca; Wan, Jijun; Zheng, Allison; Westerfield, Monte; Phillips, John A., III; Cogan, Joy D.; Newman, John H.; Robertson, Amy K.; Hamid, Rizwan; Bican, Anna; Brokamp, Elly; Duncan, Laura; Kozuira, Mary; Rives, Lynette; Shakachite, Lisa; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Koeller, David M.; Metz, Thomas O.; Undiagnosed Dis Network
Academic Journal
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; 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; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.; Undiagnosed Diseases Network
Academic Journal
Vassy, Jason L.; Christensen, Kurt D.; Schonman, Erica F.; Blout, Carrie L.; Robinson, Jill O.; Krier, Joel B.; Diamond, Pamela M.; Lebo, Matthew; Machini, Kalotina; Azzariti, Danielle R.; Dukhovny, Dmitry; Bates, David W.; MacRae, Calum A.; Murray, Michael F.; Rehm, Heidi L.; McGuire, Amy L.; Green, Robert C.
Periodical
Lane, William J; Westhoff, Connie M; Gleadall, Nicholas S; Aguad, Maria; Smeland-Wagman, Robin; Vege, Sunitha; Simmons, Daimon P; Mah, Helen H; Lebo, Matthew S; Walter, Klaudia; Soranzo, Nicole; Di Angelantonio, Emanuele; Danesh, John; Roberts, David J; Watkins, Nick A; Ouwehand, Willem H; Butterworth, Adam S; Kaufman, Richard M; Rehm, Heidi L; Silberstein, Leslie E; Green, Robert C; Bates, David W.; Blout, Carrie; Christensen, Kurt D.; Cirino, Allison L.; Ho, Carolyn Y.; Krier, Joel B.; Lehmann, Lisa S.; MacRae, Calum A.; Morton, Cynthia C.; Perry, Denise L.; Seidman, Christine E.; Sunyaev, Shamil R.; Vassy, Jason L.; Schonman, Erica; Nguyen, Tiffany; Steffens, Eleanor; Betting, Wendi Nicole; Aronson, Samuel J.; Ceyhan-Birsoy, Ozge; Machini, Kalotina; McLaughlin, Heather M.; Azzariti, Danielle R.; Tsai, Ellen A.; Blumenthal-Barby, Jennifer; Feuerman, Lindsay Z.; McGuire, Amy L.; Lee, Kaitlyn; Robinson, Jill O.; Slashinski, Melody J.; Diamond, Pamela M.; Davis, Kelly; Ubel, Peter A.; Kraft, Peter; Roberts, J. Scott; Garber, Judy E.; Hambuch, Tina; Murray, Michael F.; Kohane, Isaac; Kong, Sek Won
The Lancet Haematology; June 2018, Vol. 5 Issue: 6 pe241-e251, 11p
Academic Journal
Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E.; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K.; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W.; Applegate, Carolyn D.; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A.; Baple, Emma L.; Bhatia, Kailash P.; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; D'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E.; Farrelly, Ellyn; Fitzpatrick, David R.; Fearon, Conor; Fieg, Elizabeth L.; Fogel, Brent L.; Forman, Eva B.; Fox, Rachel G.; Gahl, William A.; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D.; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J.; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B.; Krystal, Sidney; Kumar, Kishore R.; Laurencin, Chloe; Lee, Hane; Lesca, Gaetan; Francois, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A.; Milesi, Christophe; Mills, Kelly A.; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R.; Pal, Swasti; Pallais, Juan C.; Pavillard, Frederique; Perrigault, Pierre-Francois; Petersen, Andrea K.; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G.; Stevenson, David A.; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C.; de Vries, Bert B. A.; Wilson, Jenny L.; Wong, Derek A.; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C.; de Gusmao, Claudio M.; Friedman, Jennifer; Fung, Victor S. C.; King, Mary D.; Mohammad, Shekeeb S.; Rohena, Luis; Waugh, Jeff L.; Toro, Camilo; Raymond, F. Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M.; Kurian, Manju A.; Deciphering Dev Disorders Study; Genomics England Res Consortium; NIHR BioResource; Undiagnosed Dis Network
Academic Journal
Hart, M. Ragan; Biesecker, Barbara B.; Blout, Carrie L.; Christensen, Kurt D.; Amendola, Laura M.; Bergstrom, Katie L.; Biswas, Sawona; Bowling, Kevin M.; Brothers, Kyle B.; Conlin, Laura K.; Cooper, Greg M.; Dulik, Matthew C.; East, Kelly M.; Everett, Jessica N.; Finnila, Candice R.; Ghazani, Arezou A.; Gilmore, Marian J.; Goddard, Katrina A. B; Jarvik, Gail P.; Johnston, Jennifer J.; Kauffman, Tia L.; Kelley, Whitley V.; Krier, Joel B.; Lewis, Katie L.; McGuire, Amy L.; McMullen, Carmit; Ou, Jeffrey; Plon, Sharon E.; Rehm, Heidi L.; Richards, C. Sue; Romasko, Edward J.; Miren Sagardia, Ane; Spinner, Nancy B.; Thompson, Michelle L.; Turbitt, Erin; Vassy, Jason L.; Wilfond, Benjamin S.; Veenstra, David L.; Berg, Jonathan S.; Green, Robert C.; Biesecker, Leslie G.; Hindorff, Lucia A.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(5):1100-1110
Academic Journal
Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O.M.; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A.; Hamosh, Ada; Holm, Ingrid A.; Huang, Lijia; Hurles, Matthew E.; Hutton, Ben; Krier, Joel B.; Misyura, Andriy; Mungall, Christopher J.; Paschall, Justin; Paten, Benedict; Robinson, Peter N.; Schiettecatte, François; Sobreira, Nara L.; Swaminathan, Ganesh J.; Taschner, Peter E.; Terry, Sharon F.; Washington, Nicole L.; Züchner, Stephan; Boycott, Kym M.; Rehm, Heidi L.
Human Mutation. Oct 01, 2015 36(10):915-921
검색 결과 제한하기
제한된 항목
[AR] Krier, Joel B.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어