학술논문
'학술논문'
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1~10
Academic Journal
Dries, Annika M.; Kirillova, Anna; Reuter, Chloe M.; Garcia, John; Zouk, Hana; Hawley, Megan; Murray, Brittney; Tichnell, Crystal; Pilichou, Kalliopi; Protonotarios, Alexandros; Medeiros-Domingo, Argelia; Kelly, Melissa A.; Baras, Aris; Ingles, Jodie; Semsarian, Christopher; Bauce, Barbara; Celeghin, Rudy; Basso, Cristina; Jongbloed, Jan D.H.; Nussbaum, Robert L.; Funke, Birgit; Cerrone, Marina; Mestroni, Luisa; Taylor, Matthew R.G.; Sinagra, Gianfranco; Merlo, Marco; Saguner, Ardan M.; Elliott, Perry M.; Syrris, Petros; van Tintelen, J. Peter; James, Cynthia A.; Haggerty, Christopher M.; Parikh, Victoria N.
In Genetics in Medicine October 2021 23(10):1961-1968
Academic Journal
Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; 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; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William; Johnson, Brett V.; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pinto e Vairo, Filippo; Pichurin, Pavel N.; Ewing, Sarah A.; Barnett, Sarah S.; Klee, Eric W.; Perry, M. Scott; Koenig, Mary Kay; Keegan, Catherine E.; Schuette, Jane L.; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D.; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E.; Steeves, Marcie A.; Hollander, Nicolette den; Hoffer, Mariëtte J.V.; Reijnders, Margot R.F.; Demirdas, Serwet; Koboldt, Daniel C.; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E.; Shieh, Christine; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Tezcan, Kamer; Schaefer, G.B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gécz, Jozef; Jolly, Lachlan A.
In Biological Psychiatry 15 January 2020 87(2):100-112
Academic Journal
Reuter, Chloe M.; Brimble, Elise; DeFilippo, Colette; Dries, Annika M.; Enns, Gregory M.; Ashley, Euan A.; Bernstein, Jonathan A.; Fisher, Paul Graham; Wheeler, Matthew T.
In The Journal of Pediatrics May 2018 196:291-297
Academic Journal
Dries, Annika M.; Kirillova, Anna; Reuter, Chloe M.; Garcia, John; Zouk, Hana; Hawley, Megan; Murray, Brittney; Tichnell, Crystal; Pilichou, Kalliopi; Protonotarios, Alexandros; Medeiros-Domingo, Argelia; Kelly, Melissa A.; Baras, Aris; Ingles, Jodie; Semsarian, Christopher; Bauce, Barbara; Celeghin, Rudy; Basso, Cristina; Jongbloed, Jan D.H.; Nussbaum, Robert L.; Funke, Birgit; Cerrone, Marina; Mestroni, Luisa; Taylor, Matthew R.G.; Sinagra, Gianfranco; Merlo, Marco; Saguner, Ardan M.; Elliott, Perry M.; Syrris, Petros; van Tintelen, J. Peter; James, Cynthia A.; Haggerty, Christopher M.; Parikh, Victoria N.
In Genetics in Medicine October 2021 23(10):2014-2014
Academic Journal
Tremblay-Gravel, Maxime; Ichimura, Kenzo; Picard, Kermshlise; Kawano, Yumeko; Dries, Annika M.; Haddad, Francois; Lakdawala, Neal K.; Wheeler, Matthew T.; Parikh, Victoria N.
Academic Journal
Current Cardiovascular Risk Reports; May2021, Vol. 15 Issue 5, p1-10, 10p
Periodical
Mirzaa, Ghayda M.; Chong, Jessica X.; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A.; Sajan, Samin A.; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T.; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S.; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E.H.; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E.; Akman, Cigdem I.; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W.; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G.; Nickerson, Deborah A.; van Binsbergen, Ellen; Enns, Gregory M.; Dries, Annika M.; Rowe, Leah J.; Tsai, Anne C.H.; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H.; Martinez-Agosto, Julian; Ockeloen, Charlotte W.; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A.; Eichler, Evan E.; Vincent, John B.; Bamshad, Michael J.
Genetics in Medicine; March 2020, Vol. 22 Issue: 3 p538-546, 9p
Academic Journal
Kumar, Akash; Zastrow, Diane B.; Kravets, Elijah J.; Beleford, Daniah; Ruzhnikov, Maura R. Z.; Grove, Megan E.; Dries, Annika M.; Kohler, Jennefer N.; Waggott, Daryl M.; Yang, Yaping; Huang, Yong; Mackenzie, Katherine M.; Eng, Christine M.; Fisher, Paul G.; Ashley, Euan A.; Teng, Joyce M.; Stevenson, David A.; Shieh, Joseph T.; Wheeler, Matthew T.; Bernstein, Jonathan A.
American Journal of Medical Genetics. Part A; Jun2019, Vol. 179 Issue 6, p966-977, 12p
Academic Journal
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bostwick, Bret L.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Craigen, William J.; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo M.; Murdock, David R.; Nicholas, Sarah K.; Orange, Jordan S.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Bellen, Hugo J.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Muzny, Donna M.; Ward, Patricia A.; Yang, Yaping; Goldstein, David B.; Stong, Nicholas; Cope, Heidi; Jiang, Yong-hui; McConkie-Rosell, Allyn; Pena, Loren DM.; Schoch, Kelly; Shashi, Vandana; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Tan, Queenie K.G.; Walley, Nicole M.; Aaron, Aday; Beggs, Alan H.; Briere, Lauren C.; Cooper, Cynthia M.; Donnell-Fink, Laurel A.; High, Francis; Korrick, Susan; Krieg, Elizabeth L.; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Glanton, Emily; Holm, Ingrid A.; Kohane, Isaac S.; McCray, Alexa T.; Might, Matthew; LeBlanc, Kimberly; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Brown, Donna M.; Dorset, Daniel C.; Handley, Lori H.; Jones, Angela L.; Lazar, Jozef; Levy, Shawn E.; May, Thomas; Newberry, J. Scott; Schroeder, Molly C.; Worthey, Elizabeth A.; Batzli, Gabriel F.; Dayal, Jyoti G.; Eckstein, David J.; Gould, Sarah E.; Howerton, Ellen M.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; Urv, Tiina K.; Wise, Anastasia L.; Brush, Matthew; Gourdine, Jean-Philippe F.; Haendel, Melissa; Koeller, David M.; Kyle, Jennifer E.; Metz, Thomas O.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Ashley, Euan A.; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Davidson, Jean M.; Dries, Annika M.; Enns, Gregory M.; Fernandez, Liliana; Fisher, Paul G.; Friedman, Noah D.; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Majcherska, Marta M.; Marwaha, Shruti; McCormack, Colleen E.; Merker, Jason D.; Reuter, Chloe M.; Sampson, Jacinda B.; Smith, Kevin S.; Waggott, Daryl M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Allard, Patrick; Barseghyan, Hayk; Butte, Manish J.; DellʼAngelica, Esteban C.; Dipple, Katrina M.; Dorrani, Naghmeh; Douine, Emilie D.; Eskin, Ascia; Fogel, Brent L.; Herzog, Matthew R.; Lee, Hane; Loo, Sandra K.; Martin, Martin G.; Martínez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Behnam, Babak; Burke, Elizabeth A.; DʼSouza, Precilla; Davids, Mariska; Draper, David D.; Estwick, Tyra; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Johnston, Jean M.; Lau, C. Christopher; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; Morimoto, Marie; Murphy, Jennifer L.; Nehrebecky, Michele E.; Novacic, Donna; Pusey, Barbara N.; Sharma, Prashant; Toro, Camilo; Valivullah, Zaheer M.; Wahl, Colleen E.; Yu, Guoyun; Gropman, Andrea L.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Postlethwait, John H.; Westerfield, Monte; Bican, Anna; Hamid, Rizwan; Newman, John H.; Phillips, John A., III; Robertson, Amy K.; Cogan, Joy D.
Neurology: Genetics. Aug 01, 2018 4(4)
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Academic Journal
Oláhová, Monika; Wan Hee Yoon; Thompson, Kyle; Jangam, Sharayu; Fernandez, Liliana; Davidson, Jean M.; Kyle, Jennifer E.; Grove, Megan E.; Fisk, Dianna G.; Kohler, Jennefer N.; Holmes, Matthew; Dries, Annika M.; Yong Huang; Chunli Zhao; Contrepois, Kévin; Zappala, Zachary; Frésard, Laure; Waggott, Daryl; Zink, Erika M.; Young-Mo Kim
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[AR] Dries, Annika M.
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