학술논문
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'학술논문'
에서 검색결과 80건 | 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
Rodger, Catherine ; Flex, Elisabetta ; Allison, Rachel J. ; Sanchis-Juan, Alba ; Hasenahuer, Marcia A. ; Cecchetti, Serena ; French, Courtney E. ; Edgar, James R. ; Carpentieri, Giovanna ; Ciolfi, Andrea ; Pantaleoni, Francesca ; Bruselles, Alessandro ; Onesimo, Roberta ; Zampino, Giuseppe ; Marcon, Francesca ; Siniscalchi, Ester ; Lees, Melissa ; Krishnakumar, Deepa ; McCann, Emma ; Yosifova, Dragana ; Jarvis, Joanna ; Kruer, Michael C. ; Marks, Warren ; Campbell, Jonathan ; Allen, Louise E. ; Gustincich, Stefano ; Raymond, F. Lucy ; Tartaglia, Marco ; Reid, Evan
In The American Journal of Human Genetics 3 December 2020 107(6):1129-1148
Academic Journal
Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Sola, Marta; Jensson, Brynjar O.; Hales, Emma; Katrinecz, Andrea; Molina, Esther Nieto; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Porras, Marta Sevilla; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Carrera, Ignacio Arroyo; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Rodriguez, Anna Duat; Garoz, Barbara Fernandez; Foulds, Nicola; Nunez, Deyanira Garcia-Navas; Gonzalez Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G.; Bajo, Irene Madrigal; Martinez-Monseny, Antonio F.; McKee, Shane; Cabrera, Nelmar Valentina Ortiz; Bodi, Laia Rodriguez-Revenga; Jamardo, Andrea Sariego; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Angel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P.; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F.; Barakat, Tahsin Stefan; O'Donoghue, Michael; Perez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D.; Turro, Ernest
Nature Genetics. 57(6):1367-1373
Academic Journal
Hayesmoore, Jesse B. G.; Newbury-Ecob, Ruth; Durell, Sarah; Dillon, Amy; Kanani, Farah; Beecroft, Fiona; Jarvis, Joanna; Cilliers, Deirdre; Fratter, Carl
Journal of Medical Genetics; Feb2025, Vol. 62 Issue 2, p123-125, 3p
Academic Journal
McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. K. Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Newbury-Ecob, Ruth; Norman, Andrew; O’Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, I. 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In The American Journal of Human Genetics 6 June 2019 104(6):1210-1222
Academic Journal
McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. 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Helen ; Poduri, Annapurna ; Mefford, Heather C. ; Scheffer, Ingrid E. ; Haack, Tobias B. ; McCullagh, Gary ; Millichap, John J. ; Carvill, Gemma L. ; Maher, Eamonn R. ; Kurian, Manju A.
In The American Journal of Human Genetics 2 May 2019 104(5):948-956
Academic Journal
Beal, Felicity; Forrester, Natalie; Watson, Elizabeth; Williams, Maggie; Buckton, Andrew; Marlais, Matko; Maxted, Andrew; Bebb, Charlotte; Beecroft, Fiona; Burkitt, Emma; Cilliers, Deirdre; Dixit, Abhijit; Galliford, Jack; Hayes, Wesley; Hillman, Katherine A.; Holt, Richard; Jarvis, Joanna; Jones, Caroline; Kamath, Arveen; Kharbanda, Mira
Journal of Nephrology (JNonline); Jun2024, Vol. 37 Issue 5, p1273-1284, 12p
Academic Journal
Adam, Shelin; du Souich, Christèle; Elliott, Alison M.; Lehman, Anna; Mwenifumbo, Jill; Nelson, Tanya N.; van Karnebeek, Clara; Friedman, Jan M.; McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V.K. 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Karen; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; Faundes, Víctor ; Newman, William G. ; Bernardini, Laura ; Dallapiccola, Bruno ; Davies, Sally J. ; Demos, Michelle K. ; Goldman, Amy ; Horton, Rachel ; Robertson, Lisa
In The American Journal of Human Genetics 4 January 2018 102(1):175-187
Academic Journal
Academic Journal
Titheradge, Hannah; Hartles-Spencer, Lorraine; Ames, Luke; Stockton, Jo; Lim, Derek; Ong, Kai Ren; Douglas, Emma; Chandrashekara, Madhura; Sabir, Ataf; Osio, Deborah; O'Driscoll, Mary; Williams, Denise; Brittain, Helen; Jarvis, Joanna; Kinning, Esther; Cox, Helen; Igbokwe, Rebecca; Shields, Adrian; Hackett, Scott; Dixit, Abhijit; Searle, Claire; Beggs, Andrew
Academic Journal
Greene, Daniel J.; De Wispelaere, Koenraad; Lees, Jon; Hales, Emma; Katrinecz, Andrea; Molina, Esther Nieto; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Palafoll, Ma Irene; WIjngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodriguez, Anna; Fernandez Garoz, Barbara; Foulds, Nicola; Garcia-Navas Nunez, Deyanira; Gonzalez Alguacil, Elena; Jarvis, Joanna; Kant, Sarina; Madrigal, Irene; Martinez-Monseny, Antonio F.; Mckee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodriguez-Revenga, Laia; Sariego Jamardo, Andrea; Sulem, Patrick; Suri, Mohnish; van Karnebeek, Clara; Vasudevan, Pradeep C.; Vega Pajares, Ana Isabel; Carracedo, Angel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo; Barakat, Tahsin Stefan; O'Donoghue, Michael; Perez-Jurado, Luis; Freson, Kathleen; Mumford, Andrew; Turro, Ernest
Academic Journal
Richardson, Ruth; Baralle, Diana; Bennett, Christopher; Briggs, Tracy; Bijlsma, Emilia K.; Clayton‐Smith, Jill; Constantinou, Panayiotis; Foulds, Nicola; Jarvis, Joanna; Jewell, Rosalyn; Johnson, Diana S.; McEntagart, Meriel; Parker, Michael J.; Radley, Jessica A.; Robertson, Lisa; Ruivenkamp, Claudia; Rutten, Julie W.; Tellez, James; Turnpenny, Peter D.; Wilson, Valerie
American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p867-877, 11p
Academic Journal
Tolonen JP; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK.; Parolin Schnekenberg R; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.; McGowan S; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Sims D; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; McEntagart M; South West Regional Genetics Service, St. George's University Hospitals, London, UK.; Elmslie F; South West Regional Genetics Service, St. George's University Hospitals, London, UK.; Shears D; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.; Stewart H; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.; Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK.; Dabir T; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Morrison PJ; Patrick G. Johnston Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, UK.; Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Hadjivassiliou M; Department of Neurology, Royal Hallamshire Hospital, Sheffield Teaching Hospital NHS Foundation Trust, Sheffield, UK.; Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, UK.; Shaw-Smith C; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Znaczko A; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Dixit A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Suri M; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Sarkar A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Harrison RE; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Jones G; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Ceravolo G; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Unit of Pediatric Emergency, Department of Adult and Childhood Human Pathology, University Hospital of Messina, Messina, Italy.; Jarvis J; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Williams J; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Shanks ME; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Clouston P; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Blumkin L; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Movement Disorders Service, Pediatric Neurology Unit, Edith Wolfson Medical Center, Holon, Israel.; Lerman-Sagie T; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Magen Center for Rare Diseases-Metabolic, Neurogenetic, Wolfson Medical Center, Holon, Israel.; Ponger P; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Raskin S; Genetika Centro de Aconselhamento e Laboratório, Curitiba, Brazil.; Granath K; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Uusimaa J; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.; Conti H; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK.; McCann E; Liverpool Women's Hospital Foundation Trust, Liverpool, UK.; Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.; Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.; Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.; Kingston H; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.; Bertoli M; Northern Genetics Service, International Centre for Life, Newcastle upon Tyne, UK.; Kneen R; Department of Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.; Martínez Albaladejo I; Neurology in Pediatrics, Hospital Santa Lucía, Murcia, Spain.; Moore AP; The Walton Centre NHS Foundation Trust, Liverpool, UK.; Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street NHS Foundation Trust, London, UK.; Becker EBE; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK.; Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Academic Journal
Patterson, Victoria; Ullah, Farid; Bryant, Laura; Li, Dong; Griffin, John N.; Sidhu, Alpa; Saliganan, Sheila; Blaile, Mackenzie; Saenz, Margarita S.; Smith, Rosemarie; Ellingwood, Sara; Grange, Dorothy K.; Hu, Xuyun; Mireguli, Maimaiti; Luo, Yanfei; Shen, Yiping; Mulhern, Maureen; Zackai, Elaine; Ritter, Alyssa; Izumi, Kosuke; Hoefele, Julia; Wagner, Matias; Riedhammer, Korbinian M.; Seitz, Barbara; Robin, Nathaniel H.; Goodloe, Dana; Mignot, Cyril; Keren, Boris; Cox, Helen; Jarvis, Joanna; Hempel, Maja; Gibson, Cynthia Forster; Mau-Them, Frederic Tran; Vitobello, Antonio; Bruel, Ange-Line; Sorlin, Arthur; Mehta, Sarju; Raymond, F. Lucy; Gilmore, Kelly; Powell, Bradford C.; Weck, Karen; Li, Chumei; Vulto-van Silfhout, Anneke T.; Giacomini, Thea; Mancardi, Maria Margherita; Accogli, Andrea; Salpietro, Vincenzo; Zara, Federico; Vora, Neeta L.; Davis, Erica E.; Burdine, Rebecca D.; Bhoj, Elizabeth
Academic Journal
Sanchis-Juan, Alba; Bitsara, Christina; Low, Kay Yi; Carss, Keren J.; French, Courtney E.; Spasic-Boskovic, Olivera; Jarvis, Joanna; Field, Michael; Raymond, F. Lucy; Grozeva, Detelina
Frontiers in Genetics; 6/26/2019, pN.PAG-N.PAG, 7p
Academic Journal
Greene D; De Wispelaere K; Lees J; Katrinecz A; Pascoal S; Hales E; Codina-Solà M; Valenzuela I; Tizzano EF; Atton G; Donnelly D; Foulds N; Jarvis J; McKee S; O'Donoghue M; Suri M; Vasudevan P; Stirrups K; Morgan NP; Freson K; Mumford AD; Turro E
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Titheradge, Hannah; Hartles-Spencer, Lorraine; Woodley, Jessica; Douglas, Emma; Chandrashekara, Madhura; Lim, Derek; Kinning, Esther; Sabir, Ataf; Brittain, Helen; Osio, Deborah; Ong, Kai Ren; O'Driscoll, Mary; Cox, Helen; Jarvis, Joanna; Williams, Denise; Igbokwe, Rebecca; Stockton, Joanne; Ames, Luke; Beggs, Andrew
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