학술논문
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'학술논문'
에서 검색결과 105건 | 목록
1~20
Academic Journal
Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; McNerlan, Susan; Morrison, Patrick J.; Rea, Gillian; Stewart, Fiona; Cole, Trevor; Cooper, Nicola; Cooper-Charles, Lisa; Cox, Helen; Islam, Lily; Jarvis, Joanna; Keelagher, Rebecca; Lim, Derek; McMullan, Dominic; Morton, Jenny; Naik, Swati; O’Driscoll, Mary; Ong, Kai-Ren; Osio, Deborah; Ragge, Nicola; Turton, Sarah; Vogt, Julie; Williams, Denise; Bodek, Simon; Donaldson, Alan; Hills, Alison; Low, Karen; Newbury-Ecob, Ruth; Norman, Andrew M.; Roberts, Eileen; Scurr, Ingrid; Smithson, Sarah; Tooley, Madeleine; Abbs, Steve; Armstrong, Ruth; Dunn, Carolyn; Holden, Simon; Park, Soo-Mi; Paterson, Joan; Raymond, Lucy; Reid, Evan; Sandford, Richard; Simonic, Ingrid; Tischkowitz, Marc; Woods, Geoff; Bradley, Lisa; Comerford, Joanne; Green, Andrew; Lynch, Sally; McQuaid, Shirley; Mullaney, Brendan; Berg, Jonathan; Goudie, David; Mavrak, Eleni; McLean, Joanne; McWilliam, Catherine; Reavey, Eleanor; Azam, Tara; Cleary, Elaine; Jackson, Andrew; Lam, Wayne; Lampe, Anne; Moore, David; Porteous, Mary; Baple, Emma; Baptista, Júlia; Brewer, Carole; Castle, Bruce; Kivuva, Emma; Owens, Martina; Rankin, Julia; Shaw-Smith, Charles; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Bradley, Therese; Davidson, Rosemarie; Gardiner, Carol; Joss, Shelagh; Kinning, Esther; Longman, Cheryl; McGowan, Ruth; Murday, Victoria; Pilz, Daniela; Tobias, Edward; Whiteford, Margo; Williams, Nicola; Barnicoat, Angela; Clement, Emma; Faravelli, Francesca; Hurst, Jane; Jenkins, Lucy; Jones, Wendy; Ajith Kumar, V.K.; Lees, Melissa; Loughlin, Sam; Male, Alison; Morrogh, Deborah; Rosser, Elisabeth; Scott, Richard; Wilson, Louise; Beleza, Ana; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Irving, Melita; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Molenda, Aneta; Robert, Leema; Roworth, Wendy; Ruddy, Deborah; Ryten, Mina; Yau, Shu; Bennett, Christopher; Blyth, Moira; Campbell, Jennifer; Coates, Andrea; Dobbie, Angus; Hewitt, Sarah; Hobson, Emma; Jackson, Eilidh; Jewell, Rosalyn; Kraus, Alison; Prescott, Katrina; Sheridan, Eamonn; Thomson, Jenny; Bradshaw, Kirsty; Dixit, Abhijit; Eason, Jacqueline; Haines, Rebecca; Harrison, Rachel; Mutch, Stacey; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Sharif, Abid; Suri, Mohnish; Vasudevan, Pradeep; Canham, Natalie; Ellis, Ian; Greenhalgh, Lynn; Howard, Emma; Stinton, Victoria; Swale, Andrew; Weber, Astrid; Banka, Siddharth; Breen, Catherine; Briggs, Tracy; Burkitt-Wright, Emma; Chandler, Kate; Clayton-Smith, Jill; Donnai, Dian; Douzgou, Sofia; Gaunt, Lorraine; Jones, Elizabeth; Kerr, Bronwyn; Langley, Claire; Metcalfe, Kay; Smith, Audrey; Wright, Ronnie; Bourn, David; Burn, John; Fisher, Richard; Hellens, Steve; Henderson, Alex; Montgomery, Tara; Splitt, Miranda; Straub, Volker; Wright, Michael; Zwolinski, Simon; Allen, Zoe; Bernhard, Birgitta; Brady, Angela; Brooks, Claire; Busby, Louise; Clowes, Virginia; Ghali, Neeti; Holder, Susan; Ibitoye, Rita; Wakeling, Emma; Blair, Edward; Carmichael, Jenny; Cilliers, Deirdre; Clasper, Susan; Gibbons, Richard; Kini, Usha; Lester, Tracy; Nemeth, Andrea; Poulton, Joanna; Price, Sue; Shears, Debbie; Stewart, Helen; Wilkie, Andrew; Albaba, Shadi; Baker, Duncan; Balasubramanian, Meena; Johnson, Diana; Parker, Michael; Quarrell, Oliver; Stewart, Alison; Willoughby, Josh; Crosby, Charlene; Elmslie, Frances; Homfray, Tessa; Jin, Huilin; Lahiri, Nayana; Mansour, Sahar; Marks, Karen; McEntagart, Meriel; Saggar, Anand; Tatton-Brown, Kate; Butler, Rachel; Clarke, Angus; Corrin, Sian; Fry, Andrew; Kamath, Arveen; McCann, Emma; Mugalaasi, Hood; Pottinger, Caroline; Procter, Annie; Sampson, Julian; Sansbury, Francis; Varghese, Vinod; Baralle, Diana; Callaway, Alison; Cassidy, Emma J.; Daniels, Stacey; Douglas, Andrew; Foulds, Nicola; Hunt, David; Kharbanda, Mira; Lachlan, Katherine; Mercer, Catherine; Side, Lucy; Temple, I. Karen; Wellesley, Diana; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; FurióTarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; MaleadyCrowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; 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; Bennet, 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; Peter Chang, Ta Chen; 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.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; 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; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; 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; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; 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.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; 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.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan 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; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Sharma, Prashant; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; 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.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; 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; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty ; Donkervoort, Sandra ; Brodsky, Nina N. ; Carpier, Jean-Marie ; Ji, Weizhen ; Ionita, Cristian ; Roy, Bhaskar ; Morrow, Jon S. ; Darbinyan, Armine ; Iyer, Krishna ; Aul, Ritu B. ; Chao, Katherine R. ; Cobbold, Laura ; Cohen, Stacey ; Custodio, Helena M. ; Drummond-Borg, Margaret ; Finanger, Erika ; Hainline, Bryan E. ; Helbig, Ingo ; Hewson, Stacy ; Hu, Ying ; Jackson, Adam ; Konstantino, Monica ; Leach, Meganne E. ; McCormick, David ; Nelson, Stanley ; Nguyen, Joanne ; Nugent, Kimberly ; Ortega, Lucy ; Goodkin, Howard P. ; Roeder, Elizabeth ; Roy, Sani ; Sapp, Katie ; Saade, Dimah ; Sisodiya, Sanjay M. ; Stals, Karen ; Towner, Shelley ; Wilson, William ; Khokha, Mustafa K. ; Bönnemann, Carsten G. ; Lucas, Carrie L. ; Lakhani, Saquib A.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Bonnen, Penelope E. ; Yarham, John W. ; Besse, Arnaud ; Wu, Ping ; Faqeih, Eissa A. ; Al-Asmari, Ali Mohammad ; Saleh, Mohammad A.M. ; Eyaid, Wafaa ; Hadeel, Alrukban ; He, Langping ; Smith, Frances ; Yau, Shu ; Simcox, Eve M. ; Miwa, Satomi ; Donti, Taraka ; Abu-Amero, Khaled K. ; Wong, Lee-Jun ; Craigen, William J. ; Graham, Brett H. ; Scott, Kenneth L. ; McFarland, Robert ; Taylor, Robert W.
In The American Journal of Human Genetics 5 September 2013 93(3):471-481
Academic Journal
Carss, Keren J. ; Stevens, Elizabeth ; Foley, A. Reghan ; Cirak, Sebahattin ; Riemersma, Moniek ; Torelli, Silvia ; Hoischen, Alexander ; Willer, Tobias ; van Scherpenzeel, Monique ; Moore, Steven A. ; Messina, Sonia ; Bertini, Enrico ; Bönnemann, Carsten G. ; Abdenur, Jose E. ; Grosmann, Carla M. ; Kesari, Akanchha ; Punetha, Jaya ; Quinlivan, Ros ; Waddell, Leigh B. ; Young, Helen K. ; Wraige, Elizabeth ; Yau, Shu ; Brodd, Lina ; Feng, Lucy ; Sewry, Caroline ; MacArthur, Daniel G. ; North, Kathryn N. ; Hoffman, Eric ; Stemple, Derek L. ; Hurles, Matthew E. ; van Bokhoven, Hans ; Campbell, Kevin P. ; Lefeber, Dirk J. ; Lin, Yung-Yao ; Muntoni, Francesco
In The American Journal of Human Genetics 11 July 2013 93(1):29-41
Academic Journal
Stevens, Elizabeth ; Carss, Keren J. ; Cirak, Sebahattin ; Foley, A. Reghan ; Torelli, Silvia ; Willer, Tobias ; Tambunan, Dimira E. ; Yau, Shu ; Brodd, Lina ; Sewry, Caroline A. ; Feng, Lucy ; Haliloglu, Goknur ; Orhan, Diclehan ; Dobyns, William B. ; Enns, Gregory M. ; Manning, Melanie ; Krause, Amanda ; Salih, Mustafa A. ; Walsh, Christopher A. ; Hurles, Matthew ; Campbell, Kevin P. ; Manzini, M. Chiara ; Stemple, Derek ; Lin, Yung-Yao ; Muntoni, Francesco
In The American Journal of Human Genetics 7 March 2013 92(3):354-365
Academic Journal
Sabir, Ataf H.; Morley, Elizabeth; Sheikh, Jameela; Calder, Alistair D.; Beleza-Meireles, Ana; Cheung, Moira S.; Cocca, Alessandra; Jansson, Mattias; Lillis, Suzanne; Patel, Yogen; Yau, Shu; Hall, Christine M.; Offiah, Amaka C.; Irving, Melita
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Shangaris, Panicos; Ho, Alison; Marnerides, Andreas; George, Simi; AlAdnani, Mudher; Yau, Shu; Jansson, Mattias; Hoyle, Jacqueline; Ahn, Joo Wook; Ellard, Sian; Irving, Melita; Wellesley, Diana; Pasupathy, Dharmintra; Holder-Espinasse, Muriel
Academic Journal
Petit, Selene; Badcock, Nicholas A.; Grootswagers, Tijl; Rich, Anina N.; Brock, Jon; Nickels, Lyndsey; Moerel, Denise; Dermody, Nadene; Yau, Shu; Schmidt, Elaine; Woolgar, Alexandra
Academic Journal
Aartsma-Rus, Annemieke ; Hegde, Madhuri ; Ben-Omran, Tawfeg ; Buccella, Filippo ; Ferlini, Alessandra ; Gallano, Pia ; Howell, R. Rodney ; Leturcq, France ; Martin, Ann S. ; Potulska-Chromik, Anna ; Saute, Jonas A. ; Schmidt, Wolfgang M. ; Sejersen, Thomas ; Tuffery-Giraud, Sylvie ; Uyguner, Zehra Oya ; Witcomb, Luci A. ; Yau, Shu ; Nelson, Stanley F.
In The Journal of Pediatrics January 2019 204:305-313
Academic Journal
Ruiz-Martínez, Francisco J.; Rodríguez-Martínez, Elena I.; Wilson, C. Ellie; Yau, Shu; Saldaña, David; Gómez, Carlos M.
Academic Journal
Scoto, Mariacristina; Cullup, Thomas; Cirak, Sebahattin; Yau, Shu; Manzur, Adnan Y; Feng, Lucy; Jacques, Thomas S; Anderson, Glenn; Abbs, Stephen; Sewry, Caroline; Jungbluth, Heinz; Muntoni, Francesco
Academic Journal
Cullup, Thomas; Kho, Ay Lin; Dionisi-Vici, Carlo; Brandmeier, Birgit; Smith, Frances; Urry, Zoe; Simpson, Michael A; Yau, Shu; Bertini, Enrico; McClelland, Verity; Al-Owain, Mohammed; Koelker, Stefan; Koerner, Christian; Hoffmann, Georg F; Wijburg, Frits A; Hoedt, Amber E ten; Rogers, R Curtis; Manchester, David; Miyata, Rie; Hayashi, Masaharu
Academic Journal
Campen, Julia; Silcock, Lee; Yau, Shu; Daniel, Yvonne; Ahn, Joo Wook; Ogilvie, Caroline; Mann, Kathy; Oteng‐Ntim, Eugene
Academic Journal
Vontell, Regina; Supramaniam, Veena G.; Davidson, Alice; Thornton, Claire; Marnerides, Andreas; Holder-Espinasse, Muriel; Lillis, Suzanne; Yau, Shu; Jansson, Mattias; Hagberg, Henrik E.; Rutherford, Mary A.
Frontiers in Physiology; 5/24/2019, p1-15, 15p
Academic Journal
Touraine, Renaud; Laquerrière, Annie; Petcu, Carmen‐Adina; Marguet, Florent; Byrne, Susan; Mein, Rachael; Yau, Shu; Mohammed, Shehla; Guibaud, Laurent; Gautel, Mathias; Jungbluth, Heinz
American Journal of Medical Genetics Part A. Sep 01, 2017 173(9):2522-2527
Academic Journal
Mencarelli, Maria Antonietta; Heidet, Laurence; Storey, Helen; van Geel, Michel; Knebelmann, Bertrand; Fallerini, Chiara; Miglietti, Nunzia; Antonucci, Maria Fatima; Cetta, Francesco; Sayer, John A; van den Wijngaard, Arthur; Yau, Shu; Mari, Francesca; Bruttini, Mirella; Ariani, Francesca; Dahan, Karin; Smeets, Bert; Antignac, Corinne; Flinter, Frances; Renieri, Alessandra
Journal of Medical Genetics. Mar 01, 2015 52(3):163-174
Academic Journal
AIMS Neuroscience, Vol 4, Iss 1, Pp 14-27 (2017)
Yau, S, Bardy, F, Sowman, P F & Brock, J P 2017, ' The Magnetic Acoustic Change Complex and Mismatch Field : A Comparison of Neurophysiological Measures of Auditory Discrimination ', AIMS Neuroscience, vol. 4, no. 1, pp. 14-27 . https://doi.org/10.3934/Neuroscience.2017.1.14
Yau, S, Bardy, F, Sowman, P F & Brock, J P 2017, ' The Magnetic Acoustic Change Complex and Mismatch Field : A Comparison of Neurophysiological Measures of Auditory Discrimination ', AIMS Neuroscience, vol. 4, no. 1, pp. 14-27 . https://doi.org/10.3934/Neuroscience.2017.1.14
Academic Journal
Cirak, Sebahattin; Foley, Aileen Reghan; Herrmann, Ralf; Willer, Tobias; Yau, Shu; Stevens, Elizabeth; Torelli, Silvia; Brodd, Lina; Kamynina, Alisa; Vondracek, Petr; Roper, Helen; Longman, Cheryl; Korinthenberg, Rudolf; Marrosu, Gianni; Nürnberg, Peter; Michele, Daniel E.; Plagnol, Vincent; Hurles, Matt; Moore, Steven A.; Sewry, Caroline A.; Campbell, Kevin P.; Voit, Thomas; Muntoni, Francesco
Brain. Jan 01, 2013 136(1):269-281
Academic Journal
Familial Cancer; Nov2006, Vol. 5 Issue 4, p323-326, 4p
Academic Journal
Ellard, Sian; Shields, Beverley; Tysoe, Carolyn; Treacy, Rebecca; Yau, Shu; Mattocks, Christopher; Wallace, Andrew
Genetic Testing and Molecular Biomarkers. 13:381-386
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