학술논문
'학술논문'
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1~10
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
In Medicine August 2016 44(8):508-512
Academic Journal
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; Pena, Loren; Shashi, Vandana; Undiagnosed Diseases Network; Schoch, Kelly; Sullivan, Jennifer A; 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; Rosenfeld, Jill A; 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 JV; Reijnders, Margot RF; Demirdas, Serwet; Koboldt, Daniel C; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E; Shieh, Christine; Sanchez-Lara, Pedro A; Graham, John M; Tezcan, Kamer; Schaefer, GB; Danylchuk, Noelle R; Asamoah, Alexander; Jackson, Kelly E; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A; Kleefstra, Tjitske
Biological psychiatry. 87(2)
Academic Journal
Cairns, Lauren M.; Rankin, Julia; Hamad, Asma; Cooper, Nicola; Merrifield, Katrina; Jain, Vani; Rosser, Elisabeth; Rogers, Megan; Buston, Sarah; Stopford, Cheryl; Jones, Gabriela; Lefroy, Henrietta; Németh, Andrea H.; Holden, Simon; Douglas, Andrew G. L.
Journal of Medical Genetics; Jun2022, Vol. 59 Issue 6, p544-548, 5p
Periodical
Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M.; Semina, Elena V.; Nickerson, Deborah; Bamshad, Michael; Leal, Suzanne; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; Bartoloni, Lucia; Hoffjan, Sabine; Park, Soo-Mi; Thankamony, Ajay; Lees, Melissa; Wakeling, Emma; Naik, Swati; Hanker, Britta; Girisha, Katta M.; Agolini, Emanuele; Giuseppe, Zampino; Alban, Ziegler; Tessarech, Marine; Keren, Boris; Afenjar, Alexandra; Zweier, Christiane; Reis, Andre; Smol, Thomas; Tsurusaki, Yoshinori; Nobuhiko, Okamoto; Sekiguchi, Futoshi; Tsuchida, Naomi; Matsumoto, Naomichi; Kou, Ikuyo; Yonezawa, Yoshiro; Ikegawa, Shiro; Callewaert, Bert; Freeth, Megan; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; FionaMaleady-Crowe; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; TahrimaRahim; Rendon, Augusto; TimRogers; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Kleinendorst, Lotte; Donaldson, Alan; Alders, Marielle; De Paepe, Anne; Sadikovic, Bekim; McNeill, Alisdair
Genetics in Medicine; June 2022, Vol. 24 Issue: 6 p1261-1273, 13p
Academic Journal
Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M.; Semina, V. Elena; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; Bartoloni, Lucia; Hoffjan, Sabine; Park, Soo-Mi; Thankamony, Ajay; Lees, Melissa; Wakeling, Emma; Naik, Swati; Hanker, Britta; Girisha, Katta M.; Agolini, Emanuele; Giuseppe, Zampino; Alban, Ziegler; Tessarech, Marine; Keren, Ziegler Boris; Afenjar, Alexandra; Zweier, Christiane; Reis, Andre; Smol, Thomas; Tsurusaki, Yoshinori; Nobuhiko, Okamoto; Sekiguchi, Futoshi; Tsuchida, Naomi; Matsumoto, Naomichi; Kou, Ikuyo; Yonezawa, Yoshiro; Ikegawa, Shiro; Callewaert, Bert; Freeth, Megan; Kleinendorst, Lotte; Donaldson, Alan; Alders, Marielle; De Paepe, Anne; Sadikovic, Bekim; McNeill, Alisdair
Academic Journal
Periodical
Medicine; 20240101, Issue: Preprints
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Academic Journal
Cairns, Lauren M.; Rankin, Julia; Hamad, Asma; Cooper, Nicola; Merrifield, Katrina; Jain, Vani; Rosser, Elisabeth; Rogers, Megan; Buston, Sarah; Stopford, Cheryl; Jones, Gabriela; Lefroy, Henrietta; Nemeth, Andrea H.; Holden, Simon; Douglas, Andrew G. L.
Academic Journal
Jønch, Aia Elise; Douard, Elise; Moreau, Clara; Van Dijck, Anke; Passeggeri, Marzia; Kooy, Frank; Puechberty, Jacques; Campbell, Carolyn; Sanlaville, Damien; Lefroy, Henrietta; Richetin, Sonia; Pain, Aurelie; Geneviève, David; Kini, Usha; Le Caignec, Cédric; Lespinasse, James; Skytte, Anne-Bine; Isidor, Bertrand; Zweier, Christiane; Caberg, Jean-Hubert
Journal of Medical Genetics; Oct2019, Vol. 56 Issue 10, p701-710, 10p
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[AR] Lefroy, Henrietta
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