المؤلفون: 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

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079Test

المؤلفون: Gannon, T, Perveen, R, Schlecht, H, Ramsden, S, Anderson, B, Kerr, B, Day, R, Banka, S, Suri, M, Berland, S, Gabbett, M, Ma, A, Lyonnet, S, Cormier-Daire, V, Yilmaz, R, Borck, G, Wieczorek, D, Anderlid, BM, Smithson, S, Vogt, J, Moore-Barton, H, Simsek-Kiper, PO, Maystadt, I, Destree, A, Bucher, J, Angle, B, Mohammed, S, Wakeling, E, Price, S, Singer, A, Sznajer, Y, Toutain, A, Haye, D, Newbury-Ecob, R, Fradin, M, McGaughran, J, Tuysuz, B, Tein, M, Bouman, K, Dabir, T, Van den Ende, J, Luk, HM, Pilz, DT, Eason, J, Davies, S, Reardon, W, Garavelli, L, Zuffardi, O, Devriendt, K, Armstrong, R, Johnson, D, Doco-Fenzy, M, Bijlsma, E, Unger, S, Veenstra-Knol, HE, Kohlhase, J, Lo, IFM, Smith, J, Clayton-Smith, J

المصدر: European journal of human genetics : EJHG. 23(9):1165-1170

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:131785262Test

المؤلفون: Oegema, R, Barakat, Stefan, Wilke, Martina, Stouffs, K, Amrom, D, Aronica, E, Bahi-Buisson, N, Conti, V, Fry, AE, Geis, T, Andres, DG, Parrini, E, Pogledic, I, Said, E, Soler, D, Valor, LM, Zaki, MS, Mirzaa, G, Dobyns, WB, Reiner, O, Guerrini, R, Pilz, DT, Hehr, U, Leventer, RJ, Jansen, AC, Verheijen - Mancini, Grazia, Di Donato, N

المصدر: Oegema , R , Barakat , S , Wilke , M , Stouffs , K , Amrom , D , Aronica , E , Bahi-Buisson , N , Conti , V , Fry , AE , Geis , T , Andres , DG , Parrini , E , Pogledic , I , Said , E , Soler , D , Valor , LM , Zaki , MS , Mirzaa , G , Dobyns , WB , Reiner , O , Guerrini , R , Pilz , DT , Hehr , U , Leventer , RJ , Jansen , AC ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41582-020-0395-6Test
https://pure.eur.nl/en/publications/c1fb41ee-4d6a-4ff5-9d07-ec491c7f29f9Test
https://pure.eur.nl/ws/files/48407661/Repub_130198_O-A.pdfTest
http://hdl.handle.net/1765/130198Test

المؤلفون: Fry, AE, Fawcett, KA, Zelnik, N, Yuan, H, Thompson, BAN, Shemer-Meiri, L, Cushion, TD, Mugalaasi, H, Sims, D, Stoodley, N, Chung, S-K, Rees, MI, Patel, CV, Brueton, LA, Layet, V, Giuliano, F, Kerr, MP, Banne, E, Meiner, V, Lerman-Sagie, T, Helbig, KL, Kofman, LH, Knight, KM, Chen, W, Kannan, V, Hu, C, Kusumoto, H, Zhang, J, Swanger, SA, Shaulsky, GH, Mirzaa, GM, Muir, AM, Mefford, HC, Dobyns, WB, Mackenzie, AB, Mullins, JGL, Lemke, JR, Bahi-Buisson, N, Traynelis, SF, Iago, HF, Pilz, DT

العلاقة: https://ora.ox.ac.uk/objects/uuid:02104970-55ea-411a-ac4b-9049096983f0Test; https://doi.org/10.1093/brain/awx358Test

الإتاحة: https://doi.org/10.1093/brain/awx358Test
https://ora.ox.ac.uk/objects/uuid:02104970-55ea-411a-ac4b-9049096983f0Test

المؤلفون: Vandervore, LV, Schot, R, Milanese, C, Smits, DJ, Kasteleijn, E, Fry, AE, Pilz, DT, Brock, S, Börklü-Yücel, E, Post, M, Bahi-Buisson, N, Sánchez-Soler, MJ, van Slegtenhorst, M, Keren, B, Afenjar, A, Coury, SA, Tan, W-H, Oegema, R, de Vries, LS, Fawcett, KA, Nikkels, PGJ, Bertoli-Avella, A, Al Hashem, A, Alwabel, AA, Tlili-Graiess, K, Efthymiou, S, Zafar, F, Rana, N, Bibi, F, Houlden, H, Maroofian, R, Person, RE, Crunk, A, Savatt, JM, Turner, L, Doosti, M, Karimiani, EG, Saadi, NW, Akhondian, J, Lequin, MH, Kayserili, H, van der Spek, PJ, Jansen, AC, Kros, JM, Verdijk, RM, Milošević, NJ, Fornerod, M, Mastroberardino, PG, Mancini, GMS

المصدر: American Journal of Human Genetics , 105 (6) pp. 1126-1147. (2019)

مصطلحات موضوعية: PDI, SERCA2, TMX2, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, polymicrogyria, redox

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10087996/1/Efthymiou%20AJHG-D-19-00366_R4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10087996Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10087996/1/Efthymiou%20AJHG-D-19-00366_R4.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10087996Test/

المؤلفون: Aitken, S, Firth, HV, McRae, J, Halachev, M, Kini, U, Parker, MJ, Lees, MM, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, AH, Scott, RH, Wright, CF, Marsh, JA, Hurles, ME, FitzPatrick, DR, Fitzgerald, TW, Gerety, SS, Jones, WD, van Kogelenberg, M, King, DA, Morley, KI, Parthiban, V, Al-Turki, S, Ambridge, K, Barrett, DM, Bayzetinova, T, Clayton, S, Coomber, EL, Gribble, S, Jones, P, Krishnappa, N, Mason, LE, Middleton, A, Miller, R, Prigmore, E, Rajan, D, Sifrim, A, Tivey, AR, 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, AP, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Brady, A, Bragin, E, Brewer, C, Brueton, L, Brunstrom, K, Bumpstead, SJ, Bunyan, DJ, Burn, J, Burton, J, Canham, N, Castle, B, Chandler, K, Clasper, S, Clayton-Smith, J, Cole, T, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, PM, 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, SLG, 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, Kaemba, B, Kazembe, S, Kerr, B, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Lowther, G, Lynch, SA, Magee, A, Maher, E, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McMullan, DJ, 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, Patel, C, Paterson, J, Payne, S, Phipps, J, Pilz, DT, 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, 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, Squires, M, Stewart, F, Stewart, H, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, 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, NP, Parker, M, Barrett, JC

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/164184/1/Finding%20Diagnostically%20Useful%20Patterns%20in%20Quantitative%20Phenotypic%20Data.pdfTest; Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297

الإتاحة: https://eprints.whiterose.ac.uk/164184Test/
https://eprints.whiterose.ac.uk/164184/1/Finding%20Diagnostically%20Useful%20Patterns%20in%20Quantitative%20Phenotypic%20Data.pdfTest

المؤلفون: Tatton-Brown, K, Zachariou, A, Loveday, C, Renwick, A, Mahamdallie, S, Aksglaede, L, Baralle, D, Barge-Schaapveld, D, Blyth, M, Bouma, M, Breckpot, J, Crabb, B, Dabir, T, Cormier-Daire, V, Fauth, C, Fisher, R, Gener, B, Goudie, D, Homfray, T, Hunter, M, Jorgensen, A, Kant, SG, Kirally-Borri, C, Koolen, D, Kumar, A, Labilloy, A, Lees, M, Marcelis, C, Mercer, C, Mignot, C, Miller, K, Neas, K, Newbury-Ecob, R, Pilz, DT, Posmyk, R, Prada, C, Ramsey, K, Randolph, LM, Selicorni, A, Shears, D, Suri, M, Temple, IK, Turnpenny, P, Val Maldergem, L, Varghese, V, Veenstra-Knol, HE, Yachelevich, N, Yates, L, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Rahman, N

المساهمون: Zachariou, Anna, Rahman, Sabera

مصطلحات موضوعية: Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study

وصف الملف: Electronic-eCollection; ?; application/pdf

العلاقة: Wellcome open research, 2018, 3 pp. 46 - ?; https://repository.icr.ac.uk/handle/internal/3119Test

الإتاحة: https://doi.org/10.12688/wellcomeopenres.14430.1Test
https://repository.icr.ac.uk/handle/internal/3119Test

المؤلفون: Tatton-Brown, K, Zachariou, A, Loveday, C, Renwick, A, Mahamdallie, S, Aksglaede, L, Baralle, D, Barge-Schaapveld, D, Blyth, M, Bouma, M, Breckpot, J, Crabb, B, Dabir, T, Cormier-Daire, V, Fauth, C, Fisher, R, Gener, B, Goudie, D, Homfray, T, Hunter, M, Jorgensen, A, Kant, SG, Kirally-Borri, C, Koolen, D, Kumar, A, Labilloy, A, Lees, M, Marcelis, C, Mercer, C, Mignot, C, Miller, K, Neas, K, Newbury-Ecob, R, Pilz, DT, Posmyk, R, Prada, C, Ramsey, K, Randolph, LM, Selicorni, A, Shears, D, Suri, M, Temple, IK, Turnpenny, P, Val Maldergem, L, Varghese, V, Veenstra-Knol, HE, Yachelevich, N, Yates, L, Clinical Assessment of the Utility of Sequencing and Evaluation, Deciphering Developmental Disorders (DDD) Study, Rahman, N

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109923/1/a3803595-225c-457f-9a53-ef709c75251a_14430_-_Nazneen_Rahman.pdfTest; Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; Aksglaede, L; Baralle, D; Barge-Schaapveld, D; Blyth, M; Bouma, M; et al. Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; Aksglaede, L; Baralle, D; Barge-Schaapveld, D; Blyth, M; Bouma, M; Breckpot, J; Crabb, B; Dabir, T; Cormier-Daire, V; Fauth, C; Fisher, R; Gener, B; Goudie, D; Homfray, T; Hunter, M; Jorgensen, A; Kant, SG; Kirally-Borri, C; Koolen, D; Kumar, A; Labilloy, A; Lees, M; Marcelis, C; Mercer, C; Mignot, C; Miller, K; Neas, K; Newbury-Ecob, R; Pilz, DT; Posmyk, R; Prada, C; Ramsey, K; Randolph, LM; Selicorni, A; Shears, D; Suri, M; Temple, IK; Turnpenny, P; Val Maldergem, L; Varghese, V; Veenstra-Knol, HE; Yachelevich, N; Yates, L; Clinical Assessment of the Utility of Sequencing and Evaluation; Deciphering Developmental Disorders (DDD) Study; Rahman, N (2018) The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res, 3. p. 46. ISSN 2398-502X https://doi.org/10.12688/wellcomeopenres.14430.1Test SGUL Authors: Tatton-Brown, Katrina Louise

الإتاحة: https://doi.org/10.12688/wellcomeopenres.14430.1Test
https://openaccess.sgul.ac.uk/id/eprint/109923Test/
https://openaccess.sgul.ac.uk/id/eprint/109923/1/a3803595-225c-457f-9a53-ef709c75251a_14430_-_Nazneen_Rahman.pdfTest

المؤلفون: 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, Banka, S, 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, Cox, H, 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, K-R, Park, S-M, 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, K, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Vogt, J, 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

المصدر: Nature , 542 pp. 433-438. (2017)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118543/7/Bitner_1Glindzicz_emss-78087.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118543Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10118543/7/Bitner_1Glindzicz_emss-78087.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118543Test/

المؤلفون: 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, Banka, S, 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, Cox, H, 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, 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, K-R, Park, S-M, 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, Vogt, J, 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, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/142386/8/049056v3.full.pdfTest; McRae, JF, Clayton, S, Fitzgerald, TW et al. (298 more authors) (Submitted: 2016) Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study. bioRxiv. (Submitted)

الإتاحة: https://eprints.whiterose.ac.uk/142386Test/
https://eprints.whiterose.ac.uk/142386/8/049056v3.full.pdfTest