학술논문
'학술논문'
에서 검색결과 333건 | 목록
1~20
Academic Journal
Tvergaard, NK; Tkemaladze, T; Stodberg, T; Kvarnung, M; Tatton-Brown, K; Baralle, D; Tumer, Z; Bayat, A
Clinical genetics. 106(4):427-436
Academic Journal
Stenzinger, A; Moltzen, EK; Winkler, E; Molnar-Gabor, F; Malek, N; Costescu, A; Jensen, BN; Nowak, F; Pinto, C; Ottersen, OP; Schirmacher, P; Nordborg, J; Seufferlein, T; Frohling, S; Edsjo, A; Garcia-Foncillas, J; Normanno, N; Lundgren, B; Friedman, M; Bolanos, N; Tatton-Brown, K; Hill, S; Rosenquist, R
Journal of internal medicine. 294(4):437-454
Academic Journal
Mattison, KA; Tossing, G; Mulroe, F; Simmons, C; Butler, KM; Schreiber, A; Alsadah, A; Neilson, DE; Naess, K; Wedell, A; Wredenberg, A; Sorlin, A; McCann, E; Burghel, GJ; Menendez, B; Hoganson, GE; Botto, LD; Filloux, FM; Aledo-Serrano, A; Gil-Nagel, A; Tatton-Brown, K; Verbeek, NE; van der Zwaag, B; Aleck, KA; Fazenbaker, AC; Balciuniene, J; Dubbs, HA; Marsh, ED; Garber, K; Ek, J; Duno, M; Hoei-Hansen, CE; Deardorff, MA; Raca, G; Quindipan, C; van Hirtum-Das, M; Breckpot, J; Hammer, TB; Moller, RS; Whitney, A; Douglas, AGL; Kharbanda, M; Brunetti-Pierri, N; Morleo, M; Nigro, V; May, HJ; Tao, JX; Argilli, E; Sherr, EH; Dobyns, WB; Baines, RA; Warwicker, J; Parker, JA; Banka, S; Campeau, PM; Escayg, A
Brain : a journal of neurology. 146(4):1357-1372
Academic Journal
Turnbull, C.; Garrett, A.; Loong, L.; Choi, S.; Torr, B.; Allen, S.; Durkie, M.; Callaway, A.; Drummond, J.; Burghel, G.J.; Robinson, R.; Berry, I.R.; Wallace, A.J.; Eccles, D.M.; Tischkowitz, M.; Ellard, S.; Hanson, H.; Baple, E.; Evans, D.G.; Woodward, E.; Lalloo, F.; Samant, S.; Lucassen, A.; Znaczko, A.; Shaw, A.; Ansari, A.; Kumar, A.; Donaldson, A.; Murray, A.; Ross, A.; Taylor-Beadling, A.; Taylor, A.; Innes, A.; Brady, A.; Kulkarni, A.; Hogg, A.C.; Bowden, A. Ramsay; Hadonou, A.; Coad, B.; McIldowie, B.; Speight, B.; DeSouza, B.; Mullaney, B.; McKenna, C.; Brewer, C.; Olimpio, C.; Clabby, C.; Crosby, C.; Jenkins, C.; Armstrong, C.; Bowles, C.; Brooks, C.; Byrne, C.; Maurer, C.; Baralle, D.; Chubb, D.; Stobo, D.; Moore, D.; O'Sullivan, D.; Donnelly, D.; Randhawa, D.; Halliday, D.; Atkinson, E.; Rauter, E.; Johnston, E.; Maher, E.; Sofianopoulou, E.; Petrides, E.; McRonald, F.; Pelz, F.; Frayling, I.; Corbett, G.; Rea, G.; Clouston, H.; Powell, H.; Williamson, H.; Carley, H.; Thomas, H.J.W.; Tomlinson, I.; Cook, J.; Hoyle, J.; Tellez, J.; Whitworth, J.; Williams, J.; Murray, J.; Campbell, J.; Tolmie, J.; Field, J.; Mason, J.; Burn, J.; Bruty, J.; Callaway, J.; Grant, J.; Del Rey Jimenez, J.; Pagan, J.; VanCampen, J.; Barwell, J.; Monahan, K.; Tatton-Brown, K.; Ong, K.R.; Murphy, K.; Andrews, K.; Mokretar, K.; Cadoo, K.; Smith, K.; Baker, K.; Brown, K.; Reay, K.; McKay Bounford, K.; Bradshaw, K.; Russell, K.; Stone, K.; Snape, K.; Crookes, L.; Reed, L.; Taggart, L.; Yarram, L.; Cobbold, L.; Walker, L.; Hawkes, L.; Busby, L.; Izatt, L.; Kiely, L.; Hughes, L.; Side, L.; Sarkies, L.; Greenhalgh, K.-L.; Shanmugasundaram, M.; Duff, M.; Bartlett, M.; Watson, M.; Owens, M.; Bradford, M.; Huxley, M.; Slean, M.; Ryten, M.; Smith, M.; Ahmed, M.; Roberts, N.; O'Brien, C.; Middleton, O.; Tarpey, P.; Logan, P.; Dean, P.; May, P.; Brace, P.; Tredwell, R.; Harrison, R.; Hart, R.; Kirk, R.; Martin, R.; Nyanhete, R.; Wright, R.; Davidson, R.; Cleaver, R.; Talukdar, S.; Butler, S.; Sampson, J.; Ribeiro, S.; Dell, S.; Mackenzie, S.; Hegarty, S.; Albaba, S.; McKee, S.; Palmer-Smith, S.; Heggarty, S.; MacParland, S.; Greville-Heygate, S.; Daniels, S.; Prapa, S.; Abbs, S.; Tennant, S.; Hardy, S.; MacMahon, S.; McVeigh, T.; Foo, T.; Bedenham, T.; Cranston, T.; McDevitt, T.; Clowes, V.; Tripathi, V.; McConnell, V.; Woodwaer, N.; Wallis, Y.; Kemp, Z.; Mullan, G.; Pierson, L.; Rainey, L.; Joyce, C.; Timbs, A.; Reuther, A.-M.; Frugtniet, B.; Husher, C.; Lawn, C.; Corbett, C.; Nocera-Jijon, D.; Reay, D.; Cross, E.; Ryan, F.; Lindsay, H.; Oliver, J.; Dring, J.; Spiers, J.; Harper, J.; Ciucias, K.; Connolly, L.; Tsang, M.; Brown, R.; Shepherd, S.; Begum, S.; Tadiso, T.; Linton-Willoughby, T.; Heppell, H.; Sahan, K.; Worrillow, L.; Allen, Z.; Watt, C.; Hegarty, M.; Mitchell, R.; Coles, R.; Nickless, G.; Cojocaru, E.; Doal, I.; Sava, F.; McCarthy, C.; Jeeneea, R.; Goudie, D.; McConachie, M.; Botosneanu, S.; Kavanaugh, G.; Sherlaw, C.; Tsoulaki, O.; Forde, C.; Petley, E.; Jones, A.-B.; Oprych, K.; Pryde, S.; Hyder, Z.; Elkhateeb, N.; Braham, R.; Hanington, L.; Huntley, C.; Irving, R.; Sadan, A.; Ramos, M.; Elliot, C.; Wren, D.; Lobo, D.; McLean, J.; May, D.; Kearney, L.; Campbell, T.; Asakura, K.; Alwadi, L.; O’Shea, R.; Gabriel, J.; Chiecchio, L.; Bowman, P.; Sutton, L.A.; Walsh, C.; Cloke, V.; Ucanok, D.; Davies, J.; Pleasance, B.; Maguire, E.; Whaite, A.; Best, S.; Westbury, S.; Logan, A.; Navarajasegaran, D.; Bench, A.; Wightman, P.; Cartwright, A.; Higgs, E.; J.Bott; Whitehouse, H.; Stevens, J.; Martin, D.; Dunlop, J.; Thomas, S.; Sau, C.; Farndon, S.; Coleman, N.; Angelini, P.; Massey, H.; Rowlands, C.; Garcia-Petit, C.; Gillespie, K.; Alder, A.; Middleton, E.; Cassidy, C.; Orfali, N.; Webb, A.; Luharia, A.; Walker, N.; Charlton, J.; Andreou, A.; Peddie, J.; Khan, M.; Wilkinson, L.; Bezuidenhout, H.; Edis, M.; Callard, A.; Ostrowski, P.; Moverley, P.; Bean, K.; Dunne, A.; Moleirinho, A.; Waller, S.; Cox, K.; Greensmith, L.; Brittle, A.; Gossan, N.; Freestone, L.; Shak, C.; Langford, T.; Clinch, Y.; Livesey, H.; Borland, S.; Joshi, A.; Wall, K.; Whitworth, A.; Wilsdon, A.; Edgerley, K.; Pugh, S.; Chrysochoidi, N.; Mutch, S.; McMullan, C.; Johnston, Y.; Muraru, M.; May, A.; Begum, R.; Smith, C.; Patel, R.; Bhatnagar, I.; Brown, D.; Willan, J.; Taylor, S.; Jones, K.; Ramsden, C.; Taiwo, O.; Jaudzemaite, J.; Sharmin, R.; Young, L.; O’Dubhshlaine, C.; McSorley, L.; Rodriguez, I. Abreu; Lillis, S.; Alexopoulos, P.; Mortensson, E.; Kingham, L.; Moore, R.; Kosicka-Slawinska, M.; Aslam, S.; Wells, R.; Carter, A.; Warren, H.; Rolf, E.; Reed, H.; Pearce, L.; Lock, D.; Ali, F.; Kolozi, A.; White, N.; Wood, D.; Hayden, C.; Garrett, Alice ; Allen, Sophie ; Durkie, Miranda ; Burghel, George J. ; Robinson, Rachel ; Callaway, Alison ; Field, Joanne ; Frugtniet, Bethan ; Palmer-Smith, Sheila ; Grant, Jonathan ; Pagan, Judith ; McDevitt, Trudi ; Rowlands, Charlie F. ; McVeigh, Terri ; Hanson, Helen ; Turnbull, Clare
In Genetics in Medicine February 2025 27(2)
Academic Journal
O'Donnell-Luria, AH; Pais, LS; Faundes, V; Wood, JC; Sveden, A; Luria, V; Abou Jamra, R; Accogli, A; Amburgey, K; Anderlid, BM; Azzarello-Burri, S; Basinger, AA; Bianchini, C; Bird, LM; Buchert, R; Carre, W; Ceulemans, S; Charles, P; Cox, H; Culliton, L; Curro, A; Demurger, F; Dowling, JJ; Duban-Bedu, B; Dubourg, C; Eiset, SE; Escobar, LF; Ferrarini, A; Haack, TB; Hashim, M; Heide, S; Helbig, KL; Helbig, I; Heredia, R; Heron, D; Isidor, B; Jonasson, AR; Joset, P; Keren, B; Kok, F; Kroes, HY; Lavillaureix, A; Lu, X; Maas, SM; Maegawa, GHB; Marcelis, CLM; Mark, PR; Masruha, MR; McLaughlin, HM; McWalter, K; Melchinger, EU; Mercimek-Andrews, S; Nava, C; Pendziwiat, M; Person, R; Ramelli, GP; Ramos, LLP; Rauch, A; Reavey, C; Renieri, A; Riess, A; Sanchez-Valle, A; Sattar, S; Saunders, C; Schwarz, N; Smol, T; Srour, M; Steindl, K; Syrbe, S; Taylor, JC; Telegrafi, A; Thiffault, I; Trauner, DA; van der Linden, H; van Koningsbruggen, S; Villard, L; Vogel, I; Vogt, J; Weber, YG; Wentzensen, IM; Widjaja, E; Zak, J; Baxter, S; Banka, S; Rodan, LH; Mcrae, JF; Clayton, S; Fitzgerald, TW; Kaplanis, J; Prigmore, E; Rajan, D; Sifrim, A; Aitken, S; Akawi, N; Alvi, M; Ambridge, K; Barrett, DM; Bayzetinova, T; Jones, P; Jones, WD; King, D; Krishnappa, N; Mason, LE; Singh, T; Tivey, AR; Ahmed, M; Anjum, U; Archer, H; Armstrong, R; Awada, J; Balasubramanian, M; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz, M; Blair, E; Blyth, M; Bohanna, D; Bourdon, L; Bourn, D; Bradley, L; Brady, A; Brent, S; Brewer, C; Brunstrom, K; Bunyan, DJ; Burn, J; Canham, N; Castle, B; Chandler, K; Chatzimichali, E; Cilliers, D; Clarke, A; Clasper, S; Clayton-Smith, J; Clowes, V; Coates, A; Cole, T; Colgiu, I; Collins, A; Collinson, MN; Connell, F; Cooper, N; Cresswell, L; Cross, G; Crow, Y; D'Alessandro, M; Dabir, T; Davidson, R; Davies, S; de Vries, D; Dean, J; Deshpande, C; Devlin, G; Dixit, A; Dobbie, A; Donaldson, A; Donnai, D; Donnelly, D; Donnelly, C; Douglas, A; Douzgou, S; Duncan, A; Eason, J; Ellard, S; Ellis, I; Elmslie, F; Evans, K; Everest, S; Fendick, T; Fisher, R; Flinter, F; Foulds, N; Fry, A; Fryer, A; Gardiner, C; Gaunt, L; Ghali, N; Gibbons, R; Gill, H; Goodship, J; Goudie, D; Gray, E; Green, A; Greene, P; Greenhalgh, L; Gribble, S; Harrison, R; Harrison, L; Harrison, V; Hawkins, R; He, L; Hellens, S; Henderson, A; Hewitt, S; Hildyard, L; Hobson, E; Holden, S; Holder, M; Holder, S; Hollingsworth, G; Homfray, T; Humphreys, M; Hurst, J; Hutton, B; Ingram, S; Irving, M; Islam, L; Jackson, A; Jarvis, J; Jenkins, L; Johnson, D; Jones, E; Josifova, D; Joss, S; Kaemba, B; Kazembe, S; Kelsell, R; Kerr, B; Kingston, H; Kini, U; Kinning, E; Kirby, G; Kirk, C; Kivuva, E; Kraus, A; Kumar, D; Kumar, VKA; Lachlan, K; Lam, W; Lampe, A; Langman, C; Lees, M; Lim, D; Longman, C; Lowther, G; Lynch, SA; Magee, A; Maher, E; Male, A; Mansour, S; Marks, K; Martin, K; Maye, U; McCann, E; McConnell, V; McEntagart, M; McGowan, R; Mckay, K; Mckee, S; McMullan, DJ; McNerlan, S; McWilliam, C; Mehta, S; Metcalfe, K; Middleton, A; Miedzybrodzka, Z; Miles, E; Mohammed, S; Montgomery, T; Moore, D; Morgan, S; Morton, J; Mugalaasi, H; Murday, V; Murphy, H; Naik, S; Nemeth, A; Nevitt, L; Newbury-Ecob, R; Norman, A; O'Shea, R; Ogilvie, C; Ong, KR; Park, SM; Parker, MJ; Patel, C; Paterson, J; Payne, S; Perrett, D; Phipps, J; Pilz, DT; Pollard, M; Pottinger, C; Poulton, J; Pratt, N; Prescott, K; Price, S; Pridham, A; Procter, A; Purnell, H; Quarrell, O; Ragge, N; Rahbari, R; Randall, J; Rankin, J; Raymond, L; Rice, D; Robert, L; Roberts, E; Roberts, J; Roberts, P; Roberts, G; Ross, A; Rosser, E; Saggar, A; Samant, S; Sampson, J; Sandford, R; Sarkar, A; Schweiger, S; Scott, R; Scurr, I; Selby, A; Seller, A; Sequeira, C; Shannon, N; Sharif, S; Shaw-Smith, C; Shearing, E; Shears, D; Sheridan, E; Simonic, I; Singzon, R; Skitt, Z; Smith, A; Smith, K; Smithson, S; Sneddon, L; Splitt, M; Squires, M; Stewart, F; Stewart, H; Straub, V; Suri, M; Sutton, V; Swaminathan, GJ; Sweeney, E; Tatton-Brown, K; Taylor, C; Taylor, R; Tein, M; Temple, IK; Thomson, J; Tischkowitz, M; Tomkins, S; Torokwa, A; Treacy, B; Turner, C; Turnpenny, P; Tysoe, C; Vandersteen, A; Varghese, V; Vasudevan, P; Vijayarangakannan, P; Wakeling, E; Wallwark, S; Waters, J; Weber, A; Wellesley, D; Whiteford, M; Widaa, S; Wilcox, S; Wilkinson, E; Williams, D; Williams, N; Wilson, L; Woods, G; Wragg, C; Wright, M; Yates, L; Yau, M; Nellaker, C; Parker, M; Firth, HV; Wright, CF; FitzPatrick, DR; Barrett, JC; Hurles, ME
American journal of human genetics. 104(6):1210-1222
Academic Journal
Mantoan Ritter, Laura; Annear, Nicholas M. P.; Baple, Emma L.; Ben-Chaabane, Leila Y.; Bodi, Istvan; Brosson, Lauren; Cadwgan, Jill E.; Coslett, Bryn; Crosby, Andrew H.; Davies, D. Mark; Daykin, Nicola; Dedeurwaerdere, Stefanie; Dühring Fenger, Christina; Dunlop, Elaine A.; Elmslie, Frances V.; Girodengo, Marie; Hambleton, Sophie; Jansen, Anna C.; Johnson, Simon R.; Kearley, Kelly C.; Kingswood, John C.; Laaniste, Liisi; Lachlan, Katherine; Latchford, Andrew; Madsen, Ralitsa R.; Mansour, Sahar; Mihaylov, Simeon R.; Muhammed, Louwai; Oliver, Claire; Pepper, Tom; Rawlins, Lettie E.; Schim van der Loeff, Ina; Siddiqui, Ata; Takhar, Pooja; Tatton-Brown, Katrina; Tee, Andrew R.; Tibarewal, Priyanka; Tye, Charlotte; Ultanir, Sila K.; Vanhaesebroeck, Bart; Zare, Benjamin; Pal, Deb K.; Bateman, Joseph M.
Orphanet Journal of Rare Diseases. 20(1)
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. 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In Genetics in Medicine February 2024 26(2)
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Cecchi, Alana C.; Haidar, Amier; Marin, Isabella; Kwartler, Callie S.; Prakash, Siddharth K.; Milewicz, Dianna M.
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Clinical Medicine. 23(1):9-15
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Tovy, A.; Rosas, C.; Zhang, L.; Reyes, J.M.; Huang, Y.-H.; Arakawa, T.; Guzman, A.G.; Chen, C.-W.; Kim, J.J.; Goodell, M.A.; Rau, R.E.; Gaikwad, A.S.; Medrano, G.; Kurtz, K.; Conneely, S.E.; Aguilar, R.; Gao, A.; Brunetti, L.; Marcogliese, A.N.; Carter, M.T.; Lasa-Aranzasti, A.; Valenzuela, I.; Van Maldergem, L.; Hicks, M.J.
In: Haematologica . (Haematologica, April 2022, 107(4):887-898)
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Poole, Rebecca L.; Bijlsma, Emilia K.; Houge, Gunnar; Jones, Gabriela; Mikštienė, Violeta; Preikšaitienė, Eglė; Thompson, Louise; Tatton-Brown, Katrina
Clinical Dysmorphology. Feb 22, 2023
Academic Journal
Bogue D; National Genomics Education Programme, NHS England, Birmingham, UK danielle.bogue@nhs.net.; Douglas C; Royal College of Paediatrics and Child Health, London, UK.; Miller E; National Genomics Education Programme, NHS England, Birmingham, UK.; Tatton-Brown K; National Genomics Education Programme, NHS England, Birmingham, UK.; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.; Edi-Osagie N; Newborn Intensive Care Unit, Manchester University NHS Foundation Trust, Manchester, UK.; Genomics Working Group, Royal College of Paediatrics and Child Health, London, UK.
Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101220684 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1743-0593 (Electronic) Linking ISSN: 17430585 NLM ISO Abbreviation: Arch Dis Child Educ Pract Ed Subsets: MEDLINE
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Fitzgerald, T.W.; Gerety, S.S.; Jones, W.D.; van Kogelenberg, M.; King, D.A.; McRae, J.; Morley, K.I.; Parthiban, V.; Al-Turki, S.; Ambridge, K.; Barrett, D.M.; Bayzetinova, T.; Clayton, S.; Coomber, E.L.; Gribble, S.; Jones, P.; Krishnappa, N.; Mason, L.E.; Middleton, A.; Miller, R.; Prigmore, E.; Rajan, D.; Sifrim, A.; Tivey, A.R.; Ahmed, M.; Akawi, N.; Andrews, R.; Anjum, U.; Archer, H.; Armstrong, R.; Balasubramanian, M.; Banerjee, R.; Barelle, D.; Batstone, P.; Baty, D.; Bennett, C.; Berg, J.; Bernhard, B.; Bevan, A.P.; Blair, E.; Blyth, M.; Bohanna, D.; Bourdon, L.; Bourn, D.; Brady, A.; Bragin, E.; Brewer, C.; Brueton, L.; Brunstrom, K.; Bumpstead, S.J.; Bunyan, D.J.; Burn, J.; Burton, J.; Canham, N.; Castle, B.; Chandler, K.; Clasper, S.; Clayton-Smith, J.; Cole, T.; Collins, A.; Collinson, M.N.; Connell, F.; Cooper, N.; Cox, H.; Cresswell, L.; Cross, G.; Crow, Y.; D’Alessandro, P.M.; Dabir, T.; Davidson, R.; Davies, S.; Dean, J.; Deshpande, C.; Devlin, G.; Dixit, A.; Dominiczak, A.; Donnelly, C.; Donnelly, D.; Douglas, A.; Duncan, A.; Eason, J.; Edkins, S.; Ellard, S.; Ellis, P.; Elmslie, F.; Evans, K.; Everest, S.; Fendick, T.; Fisher, R.; Flinter, F.; Foulds, N.; Fryer, A.; Fu, B.; Gardiner, C.; Gaunt, L.; Ghali, N.; Gibbons, R.; Pereira, S.L. Gomes; Goodship, J.; Goudie, D.; Gray, E.; Greene, P.; Greenhalgh, L.; Harrison, L.; Hawkins, R.; Hellens, S.; Henderson, A.; Hobson, E.; Holden, S.; Holder, S.; Hollingsworth, G.; Homfray, T.; Humphreys, M.; Hurst, J.; Ingram, S.; Irving, M.; Jarvis, J.; Jenkins, L.; Johnson, D.; Jones, D.; Jones, E.; Josifova, D.; Joss, S.; Kaemba, B.; Kazembe, S.; Kerr, B.; Kini, U.; Kinning, E.; Kirby, G.; Kirk, C.; Kivuva, E.; Kraus, A.; Kumar, D.; Lachlan, K.; Lam, W.; Lampe, A.; Langman, C.; Lees, M.; Lim, D.; Lowther, G.; Lynch, S.A.; Magee, A.; Maher, E.; Mansour, S.; Marks, K.; Martin, K.; Maye, U.; McCann, E.; McConnell, V.; McEntagart, M.; McGowan, R.; McKay, K.; McKee, S.; McMullan, D.J.; McNerlan, S.; Mehta, S.; Metcalfe, K.; Miles, E.; Mohammed, S.; Montgomery, T.; Moore, D.; Morgan, S.; Morris, A.; Morton, J.; Mugalaasi, H.; Murday, V.; Nevitt, L.; Newbury-Ecob, R.; Norman, A.; O’Shea, R.; Ogilvie, C.; Park, S.; Parker, M.J.; Patel, C.; Paterson, J.; Payne, S.; Phipps, J.; Pilz, D.T.; Porteous, D.; Pratt, N.; Prescott, K.; Price, S.; Pridham, A.; Proctor, A.; Purnell, H.; Ragge, N.; Rankin, J.; Raymond, L.; Rice, D.; Robert, L.; Roberts, E.; Roberts, G.; Roberts, J.; Roberts, P.; Ross, A.; Rosser, E.; Saggar, A.; Samant, S.; Sandford, R.; Sarkar, A.; Schweiger, S.; Scott, C.; Scott, R.; Selby, A.; Seller, A.; Sequeira, C.; Shannon, N.; Sharif, S.; Shaw-Smith, C.; Shearing, E.; Shears, D.; Simonic, I.; Simpkin, D.; Singzon, R.; Skitt, Z.; Smith, A.; Smith, B.; Smith, K.; Smithson, S.; Sneddon, L.; Splitt, M.; Squires, M.; Stewart, F.; Stewart, H.; Suri, M.; Sutton, V.; Swaminathan, G.J.; Sweeney, E.; Tatton-Brown, K.; Taylor, C.; Taylor, R.; Tein, M.; Temple, I.K.; Thomson, J.; Tolmie, J.; Torokwa, A.; Treacy, B.; Turner, C.; Turnpenny, P.; Tysoe, C.; Vandersteen, A.; Vasudevan, P.; Vogt, J.; Wakeling, E.; Walker, D.; Waters, J.; Weber, A.; Wellesley, D.; Whiteford, M.; Widaa, S.; Wilcox, S.; Williams, D.; Williams, N.; Woods, G.; Wragg, C.; Wright, M.; Yang, F.; Yau, M.; Carter, N.P.; Parker, M.; Firth, H.V.; FitzPatrick, D.R.; Wright, C.F.; Barrett, J.C.; Hurles, M.E.; Aitken, Stuart; Firth, Helen V.; McRae, Jeremy; Halachev, Mihail; Kini, Usha; Parker, Michael J.; Lees, Melissa M.; Lachlan, Katherine; Sarkar, Ajoy; Joss, Shelagh; Splitt, Miranda; McKee, Shane; Németh, Andrea H.; Scott, Richard H.; Wright, Caroline F.; Marsh, Joseph A.; Hurles, Matthew E.; FitzPatrick, David R.
In The American Journal of Human Genetics 7 November 2019 105(5):933-946
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In: Developmental Medicine and Child Neurology . (Developmental Medicine and Child Neurology, 1 August 2020, 62(8):993-998)
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Blok, Lot Snijders; Madsen, Erik; Juusola, Jane; Gilissen, Christian; Baralle, Diana; Reijnders, Margot RF; Venselaar, Hanka; Helsmoortel, Céline; Cho, Megan T; Hoischen, Alexander; Vissers, Lisenka ELM; Koemans, Tom S; Wissink-Lindhout, Willemijn; Eichler, Evan E; Romano, Corrado; Van Esch, Hilde; Stumpel, Connie; Vreeburg, Maaike; Smeets, Eric; Oberndorff, Karin; van Bon, Bregje WM; Shaw, Marie; Gecz, Jozef; Haan, Eric; Bienek, Melanie; Jensen, Corinna; Loeys, Bart L; Van Dijck, Anke; Innes, A Micheil; Racher, Hilary; Vermeer, Sascha; Di Donato, Nataliya; Rump, Andreas; Tatton-Brown, Katrina; Parker, Michael J; Henderson, Alex; Lynch, Sally A; Fryer, Alan; Ross, Alison; Vasudevan, Pradeep; Kini, Usha; Newbury-Ecob, Ruth; Chandler, Kate; Male, Alison; Study, the DDD; Dijkstra, Sybe; Schieving, Jolanda; Giltay, Jacques; van Gassen, Koen LI; Schuurs-Hoeijmakers, Janneke; Tan, Perciliz L; Pediaditakis, Igor; Haas, Stefan A; Retterer, Kyle; Reed, Patrick; Monaghan, Kristin G; Haverfield, Eden; Natowicz, Marvin; Myers, Angela; Kruer, Michael C; Stein, Quinn; Strauss, Kevin A; Brigatti, Karlla W; Keating, Katherine; Burton, Barbara K; Kim, Katherine H; Charrow, Joel; Norman, Jennifer; Foster-Barber, Audrey; Kline, Antonie D; Kimball, Amy; Zackai, Elaine; Harr, Margaret; Fox, Joyce; McLaughlin, Julie; Lindstrom, Kristin; Haude, Katrina M; van Roozendaal, Kees; Brunner, Han; Chung, Wendy K; Kooy, R Frank; Pfundt, Rolph; Kalscheuer, Vera; Mehta, Sarju G; Katsanis, Nicholas; Kleefstra, Tjitske
American Journal of Human Genetics. 97(2)
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In: Human Genome Variation . (Human Genome Variation, 1 December 2020, 7(1))
Academic Journal
Nightingale KP; Faculty of Life Sciences and Medicine, King's College London, United Kingdom; Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, United Kingdom. Electronic address: karl.p.nightingale@kcl.ac.uk.; Bishop M; Wellcome Connecting Science, Wellcome Genome Campus, Hinxton, United Kingdom.; Avitabile N; Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, United Kingdom.; Simpson S; Genomics Education Programme, NHS England, United Kingdom.; Freidoony L; Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, United Kingdom.; Buckley S; Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, United Kingdom.; Tatton-Brown K; Genomics Education Programme, NHS England, United Kingdom.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Academic Journal
Xin, B.; Cruz Marino, T.; Szekely, J.; Leblanc, J.; Cechner, K.; Sency, V.; Wensel, C.; Barabas, M.; Therriault, V.; Wang, H.
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