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'학술논문'
에서 검색결과 170건 | 목록
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Academic Journal
Seroussi, E; Kedra, D; Pan, HQ; Peyrard, M; Schwartz, C; Scambler, P; Donnai, D; Roe, BA; Dumanski, JP
GENOME RESEARCH. 9(9):803-814
Academic Journal
Grozeva D; Carss K; Spasic Boskovic O; Tejada MI; Gecz J; Shaw M; Corbett M; Haan E; Thompson E; Friend K; Hussain Z; Hackett A; Field M; Renieri A; Stevenson R; Schwartz C; Floyd JA; Bentham J; Cosgrove C; Keavney B; Bhattacharya S; Italian X. linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M; Raymond F.L. Strangoni G; D' Avanzo G; Carnevale F; RESTA, Nicoletta; Scarano G; Mazzanti L; Borgatti R; Parini B; Marchina E; Strisciuglio P; Cavalli P; Bigoni S; Zammarchi E; Faravelli F; Di Rocco M; Lerone M; Gaslini G; D'Alessandro E; Selicorni A; Pantaleoni C; Bedeschi F; Rinaldi MM; Tenconi R; Verri A; Battaglia A; Guerrini R; Priolo M; Garavelli L; Neri G; Pergola M; Galasso C; Zelante L; Ferrero G; Memo L; Turolla L; Hladnik U; Romano C; Durbin R; Barrett J; Barroso I; Davey Smith G; Farooqi IS; O' Rahilly S; Palotie A; Soranzo N; Spector T; Zeggini E; Beales P; Blackwood D; Bolton P; Breen G; Chatterjee K; Collier D; Fitzpatrick D; Gallagher L; Geschwind D; Gurling H; Humphries S; McGuffin P; Monaco A; Muntoni F; Owen M; Raymond L; Savage D; Scambler P; Semple R; Skuse D; St Clair D; Timpson N; Van der Aa N; Ahmed A; Ajith VK; Archer H; Armstrong R; Balasubramanian M; Baralle D; Barnicoat A; Bennett C; Bernhard B; Bianciardi L; Bitner Glindzicz M; Blair E; van Bokhoven H; van Bon B; Bradley L; Brady A; Brewer C; Brunner H; Burke M; Caliebe A; Canham N; Castle B; Chandler K; Clarke A; Clayton Smith J; Clowes V; Cole T; Collins A; Cook J; Coughlin C; Cowe A; Cox H; Crow Y; Dabir T; Davies S; Deshpande D; Diderich KE; Dolling C; Donnai D; Donnelly D; Dooijes D; Dupont J; Ellis I; Van Esch H; De Filippis R; Firth H; Fisher R; Foulds N; Franco B; Fry A; Fryer A; Fuchs G; Garcia S; Gardiner C; Gibbons R; Goodship J; Green A; Greenhalgh L; Guanti G; Guilbert P; Halest MV; Haroon M; Harvey J; Henderson A; Hennekam R; Holden S; Holder S; Homfray T; Hurst J; Ionnides A; Jarvis J; Johnson DS; Jones E; Jones L; Jongmans M; Josifova D; Joss S; Kenny J; Kerr B; Kingston H; Kini U; Kivuva E; Kooy F; Kraus A; Kurian M; Lachlan K; Lam W; Lees M; Lindsay S; Longman C; Lynch S; Magee A; Van Maldergem L; Male A; Mari F; McConnell V; McGeb A; McKee S; McKeown C; McWilliam C; Medeira A; Mehta S; Metcalfe K; Mohammed S; Morton J; Murday V; Newbury Ecob R; Nik Zainal' S; Norman A; Park SM; Parker MJ; Prescott K; Price S; Procter A; Quarrell O; Rankin J; Rea G; Reardon W; Robert L; Rosser E; Sandford R; Scott R; Scurr I; Senger G; Sharif S; Shaw A; Shaw C; Shears D; Smithson S; Splitt M; Stewart A; Stewart F; Stewart H; Suri M; Sweeney E; Taffinder S; Tanteles G; Temple K; Thompson J; Tocher J; Tomkins S; Turner C; Turnpenny P; Vanderstein A; Vasudevan P; Villard L; Visser L; Wakeling E; Weber A; Williams D; Wilson L; Woods G; Wright M; Writzl K; Yates L.
Hum Mutat
Grozeva, D, Carss, K, Spasic-Boskovic, O, Tejada, M-I, Gecz, J, Shaw, M, Corbett, M, Haan, E, Thompson, E, Friend, K, Hussain, Z, Hackett, A, Field, M, Renieri, A, Stevenson, R, Schwartz, C, Floyd, J A B, Bentham, J, Cosgrove, C, Keavney, B, Bhattacharya, S, Hurles, M & Raymond, F L 2015, 'Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.', Human Mutation, vol. 36, no. 12. https://doi.org/10.1002/humu.22901
Grozeva, D, Carss, K, Spasic-Boskovic, O, Tejada, M-I, Gecz, J, Shaw, M, Corbett, M, Haan, E, Thompson, E, Friend, K, Hussain, Z, Hackett, A, Field, M, Renieri, A, Stevenson, R, Schwartz, C, Floyd, J A B, Bentham, J, Cosgrove, C, Keavney, B, Bhattacharya, S, Hurles, M & Raymond, F L 2015, 'Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.', Human Mutation, vol. 36, no. 12. https://doi.org/10.1002/humu.22901
Academic Journal
Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; Wang, C; Ahluwalia, TS; Vrijheid, M; Guxens, M; Sunyer, J; Tachmazidou, I; Walter, K; Iotchkova, V; Jackson, A; Cleal, L; Huffmann, J; Min, JL; Sass, L; Timmers, PRHJ; Al Turki, S; Anderson, CA; Anney, R; Antony, D; Artigas, MS; Ayub, M; Bala, S; Barrett, JC; Barroso, I; Beales, P; Bentham, J; Bhattacharya, S; Birney, E; Blackwood, D; Bobrow, M; Bochukova, E; Bolton, PF; Bounds, R; Boustred, C; Breen, G; Calissano, M; Carss, K; Charlton, R; Chatterjee, K; Chen, L; Ciampi, A; Cirak, S; Clapham, P; Clement, G; Coates, G; Cocca, M; Collier, DA; Cosgrove, C; Cox, T; Craddock, N; Crooks, L; Curran, S; Curtis, D; Daly, A; Danecek, P; Day, INM; Day-Williams, A; Dominiczak, A; Down, T; Du, Y; Dunham, I; Durbin, R; Edkins, S; Ekong, R; Ellis, P; Evans, DM; Farooqi, IS; Fitzpatrick, DR; Flicek, P; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Gallagher, L; Gaunt, TR; Geihs, M; Geschwind, D; Greenwood, CMT; Griffin, H; Grozeva, D; Guo, X; Gurling, H; Hart, D; Hendricks, AE; Holmans, P; Howie, B; Huang, J; Huang, L; Hubbard, T; Humphries, SE; Hurles, ME; Hysi, P; Jackson, DK; Jamshidi, Y; Joyce, C; Karczewski, KJ; Kaye, J; Keane, T; Kemp, JP; Kennedy, K; Kent, A; Keogh, J; Khawaja, F; van Kogelenberg, M; Kolb-Kokocinski, A; Lachance, G; Langford, C; Lawson, D; Lee, I; Lek, M; Li, R; Li, Y; Liang, J; Lin, H; Liu, R; Lonnqvist, J; Lopes, LR; Lopes, M; MacArthur, DG; Mangino, M; Marchini, J; Marenne, G; Maslen, J; Mathieson, I; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Memari, Y; Metrustry, S; Migone, N; Mitchison, HM; Moayyeri, A; Morris, A; Morris, J; Muddyman, D; Muntoni, F; Northstone, K; O'Donovan, MC; O'Rahilly, S; Onoufriadis, A; Oualkacha, K; Owen, MJ; Palotie, A; Panoutsopoulou, K; Parker, V; Parr, JR; Paternoster, L; Paunio, T; Payne, F; Payne, SJ; Perry, JRB; Pietilainen, O; Plagnol, V; Pollitt, RC; Porteous, DJ; Povey, S; Quail, MA; Quaye, L; Raymond, FL; Rehnstrom, K; Richards, JB; Ridout, CK; Ring, S; Ritchie, GRS; Roberts, N; Robinson, RL; Savage, DB; Scambler, P; Schiffels, S; Schmidts, M; Schoenmakers, N; Scott, RH; Semple, RK; Serra, E; Sharp, SI; Shaw, A; Shihab, HA; Shin, S-Y; Skuse, D; Small, KS; Smee, C; Smith, BH; Soranzo, N; Southam, L; Spasic-Boskovic, O; Spector, TD; St Clair, D; Stalker, J; Stevens, E; Sun, J; Surdulescu, G; Suvisaari, J; Syrris, P; Taylor, R; Tian, J; Tobin, MD; Valdes, AM; Vandersteen, AM; Vijayarangakannan, P; Visscher, PM; Wain, LV; Walters, JTR; Wang, G; Wang, J; Wang, Y; Ward, K; Wheeler, E; Whyte, T; Williams, HJ; Williamson, KA; Wilson, C; Wilson, SG; Wong, K; Xu, C; Yang, J; Zhang, F; Zhang, P; Zheng, H-F; Smith, GD; Fisher, SE; Wilson, JF; Cole, TJ; Fernandez-Orth, D; Bonnelykke, K; Bisgaard, H; Pennell, CE; Jaddoe, VWV; Dedoussis, G; Timpson, N; Zeggini, E; Vitart, V; St Pourcain, B; UK10K Consortium
Nat Commun
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Cole, T J, Timpson, N & Zeggini, E & St Pourcain, B 2019, 'Low-frequency variation in TP53 has large effects on head circumference and intracranial volume', Nature Communications, vol. 10, 357. https://doi.org/10.1038/s41467-018-07863-x
UK10K Consortium, Al Turki, S, Anderson, C A, Anney, R, Zhang, F, Zhang, P & Zheng, H-F 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gómez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffman, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Fisher, S E, Wilson, J F, Cole, T J, Fernandez-Orth, D, Bønnelykke, K, Bisgaard, H, Pennell, C E, Jaddoe, V W V, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V & St Pourcain, B & McKechanie, A G 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Cole, T J, Timpson, N & Zeggini, E & St Pourcain, B 2019, 'Low-frequency variation in TP53 has large effects on head circumference and intracranial volume', Nature Communications, vol. 10, 357. https://doi.org/10.1038/s41467-018-07863-x
UK10K Consortium, Al Turki, S, Anderson, C A, Anney, R, Zhang, F, Zhang, P & Zheng, H-F 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gómez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffman, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Fisher, S E, Wilson, J F, Cole, T J, Fernandez-Orth, D, Bønnelykke, K, Bisgaard, H, Pennell, C E, Jaddoe, V W V, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V & St Pourcain, B & McKechanie, A G 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Academic Journal
Jafree, D; Moulding, D; Kolatsi-Joannou, M; Perretta Tejedor, N; Price, K; Milmoe, N; Walsh, C; Correra, R; Winyard, P; Harris, P; Ruhrberg, C; Walker-Samuel, S; Riley, P; Woolf, A; Scambler, P; Long, D
eLife
eLife, Vol 8 (2019)
Jafree, D J, Moulding, D, Kolatsi-Joannou, M, Tejedor, N P, Price, K L, Milmore, N, Walsh, C, Correra, R M, Winyard, P J D, Harris, P C, Ruhrberg, C, Simon-Walker, S, Riley, P R, Woolf, A S,Scambler, P J & Long, D A 2019, 'Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease', eLife.
eLife, Vol 8 (2019)
Jafree, D J, Moulding, D, Kolatsi-Joannou, M, Tejedor, N P, Price, K L, Milmore, N, Walsh, C, Correra, R M, Winyard, P J D, Harris, P C, Ruhrberg, C, Simon-Walker, S, Riley, P R, Woolf, A S,
Academic Journal
Journal of Medical Genetics; Aug1986, Vol. 23 Issue 4, p295-299, 5p, 1 Diagram
Academic Journal
British Journal of Cancer; Nov1998, Vol. 78 Issue 9, p1181-1187, 7p
Academic Journal
Journal of Medical Genetics; Oct1993, Vol. 30 Issue 10, p852-856, 5p, 1 Black and White Photograph, 1 Chart
Academic Journal
Khodiyar, V K; Hill, D P; Howe, D; Berardini, T Z; Tweedie, S; Talmud, P J; Breckenridge, R; Bhattarcharya, S; Riley, P; Scambler, P; Lovering, R C
Developmental Biology. 354:9-17
Academic Journal
Hussain, S; Romio, L; Saleem, MA; Mathieson, PW; Serrano, M; Moscat, J; Diaz-Meco, M; Scambler, P; Koziell, A
J Am Soc Nephrol 20:1733-1743
Academic Journal
Twigg, SR; Versnel, S; Nürnberg, G; Lees, M; Bhat, M; Hammond, P; Hennekam, R; Hoogeboom, A; Hurst, J; Johnson, D; Robinson, A; Scambler, P; Gerrelli, D; Nürnberg, P; Mathijssen, I; Wilkie, A
The American Journal of Human Genetics. 84:698-705
Academic Journal
Roberts, C; Sutherland, H; Farmer, H; Kimber, W; Halford, S; Carey, A; Brickman, J; Wynshaw-Boris, A; Scambler, P
Molecular and Cellular Biology. 22:2318-2328
Academic Journal
HUMAN MOLECULAR GENETICS. 11(4):379-388
Academic Journal
J Vis Exp
Ivins, S, Roberts, C, Vernay, B &Scambler, P J 2016, ' Analysis of Coronary Vessels in Cleared Embryonic Hearts ', Journal of Visualized Experiments (JoVE), no. 118 . https://doi.org/10.3791/54800
Ivins, S, Roberts, C, Vernay, B &
Academic Journal
Clinical Endocrinology. 52:519-524
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