학술논문
'학술논문'
에서 검색결과 41건 | 목록
1~10
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)
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
Academic Journal
Rendtorff, Nanna Dahl; Karstensen, Helena Gásdal; Lodahl, Marianne; Tolmie, John; McWilliam, Catherine; Bak, Mads; Tommerup, Niels; Nazaryan-Petersen, Lusine; Kunst, Henricus; Wong, Melanie; Joss, Shelagh; Carelli, Valerio; Tranebjærg, Lisbeth
Academic Journal
Gazdagh, Gabriella; Hunt, David; Gonzalez, Anna Maria Cueto; Rodriguez, Monserrat Pons; Chaudhry, Ayeshah; Madruga, Marcos; Vansenne, Fleur; Shears, Deborah; Curie, Aurore; Stattin, Eva‐Lena; Anderlid, Britt‐Marie; Trajkova, Slavica; Angelovska, Elena Sukarova; McWilliam, Catherine; Wyatt, Philip R.; O'Driscoll, Mary; Atton, Giles; Bergman, Anke K.; Zacher, Pia; Mewasingh, Leena D.
American Journal of Medical Genetics. Part A; Jul2023, Vol. 191 Issue 7, p1722-1740, 19p
Academic Journal
Hamilton, Mark J.; Robb, Yvonne; Cumming, Sarah; Gregory, Helen; Duncan, Alexis; Rahman, Monika; McKeown, Anne; McWilliam, Catherine; Dean, John; Wilcox, Alison; Farrugia, Maria E.; Cooper, Anneli; McGhie, Josephine; Adam, Berit; Petty, Richard; null, null; Longman, Cheryl; Findlay, Iain; Japp, Alan; Monckton, Darren G.
Academic Journal
Gazdagh, Gaby; Hunt, David; Atton, Giles; Maria Cueto-Gonzalez, Anna; Pons, Monserrat; Chaudhry, Ayeshah; Madruga, Marcus; Vansenne, Fleur; Sukarova-Angelovska, Elena; Shears, Deborah; Aurore, Curie; Stattin, Eva-Lena; Anderlid, Britt M.; Trajkova, Slavica; McWilliam, Catherine; O'Driscoll, Mary; Katharina Bergmann, Anke; Zacher, Pia; Mewasingh, Leena; Gonzalez-Meneses Lopez, Antonio; Alonso-Luengo, Olga; Debant, Anne; Schmidt, Susanne; Baralle, Diana; Boiroux, Pauline
Periodical
Cumming, Sarah; Hamilton, Mark; Robb, Yvonne; Gregory, Helen; McWilliam, Catherine; Cooper, Anneli; Adam, Berit; McGhie, Josephine; Hamilton, Graham; Herzyk, Pawel; Tschannen, Michael; Worthey, Elizabeth; Petty, Richard; Ballantyne, Bob; Warner, Jon; Farrugia, Maria; Longman, Cheryl; Monckton, Darren
European Journal of Human Genetics: EJHG; November 2018, Vol. 26 Issue: 11 p1635-1647, 13p
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, Paul A.; 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; Ajith Kumar, V. K.; 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, Karen I.; 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.
Nature. Feb 23, 2017 542(7642):433-438
Academic Journal
Gillingwater, Thomas H.; McWilliam, Catherine; Horrocks, Iain; McWilliam, Kenneth; Hamilton, Mark; Fletcher, Elaine; Williams, Nicola; Smith, Sarah; Parson, Simon H.
Scottish Medical Journal; Feb2022, Vol. 67 Issue 1, p46-47, 2p
Academic Journal
Laskowski, Roman A.; Tyagi, Nidhi; Johnson, Diana; Joss, Shelagh; Kinning, Esther; McWilliam, Catherine; Splitt, Miranda; Thornton, Janet M.; Firth, Helen V.; Study, DDD; Wright, Caroline F.
Human Molecular Genetics; 3/1/2016, Vol. 25 Issue 5, p927-935, 9p
Periodical
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.; Banka, Siddharth; Chao, Katherine R.; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M.; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E.; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E.; Mak, Bryan; McCormick, David; McGee, Elisabeth; 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; 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; Khokha, Mustafa K.; Bönnemann, Carsten G.; Lucas, Carrie L.; Lakhani, Saquib A.
Genetics in Medicine; 20230101, Issue: Preprints
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[AR] McWilliam, Catherine
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