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المؤلفون: C. Loveday, A. Garrett, P. Law, S. Hanks, E. Poyastro-Pearson, J.W. Adlard, J. Barwell, J. Berg, A.F. Brady, C. Brewer, C. Chapman, J. Cook, R. Davidson, A. Donaldson, F. Douglas, L. Greenhalgh, A. Henderson, L. Izatt, A. Kumar, F. Lalloo, Z. Miedzybrodzka, P.J. Morrison, J. Paterson, M. Porteous, M.T. Rogers, L. Walker, D. Eccles, D.G. Evans, K. Snape, H. Hanson, R.S. Houlston, C. Turnbull, A. Ardern-Jones, J. Adlard, M. Ahmed, G. Attard, K. Bailey, E. Bancroft, C. Bardsley, D. Barton, M. Bartlett, L. Baxter, R. Belk, B. Bernhard, T. Bishop, L. Boyes, N. Bradshaw, S. Brant, G. Brice, G. Bromilow, C. Brooks, A. Bruce, B. Bulman, L. Burgess, J. Campbell, N. Canham, B. Castle, R. Cetnarskyj, O. Claber, N. Coates, T. Cole, A. Collins, S. Coulson, G. Crawford, D. Cruger, C. Cummings, L. D’Mello, L. Day, B. Dell, C. Dolling, H. Dorkins, S. Downing, S. Drummond, C. Dubras, J. Dunlop, S. Durrell, C. Eddy, M. Edwards, E. Edwards, J. Edwardson, R. Eeles, I. Ellis, F. Elmslie, G. Evans, B. Gibbons, C. Gardiner, N. Ghali, C. Giblin, S. Gibson, S. Goff, S. Goodman, D. Goudie, J. Grier, H. Gregory, S. Halliday, R. Hardy, C. Hartigan, T. Heaton, C. Higgins, S. Hodgson, T. Homfray, D. Horrigan, C. Houghton, L. Hughes, V. Hunt, L. Irvine, C. Jacobs, S. James, M. James, L. Jeffers, I. Jobson, W. Jones, M.J. Kennedy, S. Kenwrick, C. Kightley, C. Kirk, E. Kirk, E. Kivuva, K. Kohut, M. Kosicka-Slawinska, A. Kulkarni, N. Lambord, C. Langman, P. Leonard, S. Levene, S. Locker, P. Logan, M. Longmuir, A. Lucassen, V. Lyus, A. Magee, A. Male, S. Mansour, D. McBride, E. McCann, V. McConnell, M. McEntagart, C. McKeown, L. McLeish, D. McLeod, A. Melville, L. Mercer, C. Mercer, A. Mitra, V. Murday, A. Murray, K. Myhill, J. Myring, E. O'Hara, P. Pearson, G. Pichert, K. Platt, C. Pottinger, S. Price, L. Protheroe, S. Pugh, O. Quarrell, K. Randhawa, C. Riddick, L. Robertson, A. Robinson, V. Roffey-Johnson, M. Rogers, S. Rose, S. Rowe, A. Schofield, N. Rahman, S. Saya, G. Scott, J. Scott, A. Searle, S. Shanley, S. Sharif, A. Shaw, J. Shaw, J. Shea-Simonds, L. Side, J. Sillibourne, K. Simon, S. Simpson, S. Slater, S. Smalley, K. Smith, L. Snadden, J. Soloway, Y. Stait, B. Stayner, M. Steel, C. Steel, H. Stewart, D. Stirling, M. Thomas, S. Thomas, S. Tomkins, H. Turner, A. Vandersteen, E. Wakeling, F. Waldrup, C. Watt, S. Watts, A. Webber, C. Whyte, J. Wiggins, E. Williams, L. Winchester
المصدر: Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Donaldson, A, Douglas, F, Greenhalgh, L, Izatt, L, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Porteous, M, Eccles, D, Evans, D G, Snape, K, Houlston, R S, Hanson, H, Turnbull, C, Rogers, M T, Walker, L, Brewer, C, Paterson, J, Kumar, A, Davidson, R, Chapman, C & Cook, J 2022, ' Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152
Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Garrett, A, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Brewer, C, Chapman, C, Cook, J, Davidson, R, Donaldson, A, Douglas, F, Greenhalgh, L, Henderson, A, Izatt, L, Kumar, A, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Paterson, J, Porteous, M, Rogers, M T, Walker, L, Eccles, D, Evans, D G, Snape, K, Hanson, H, Houlston, R S & Turnbull, C 2022, ' Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152مصطلحات موضوعية: Adult, Ovarian Neoplasms, rare-variant burden testing, Whole exome sequencing, Breast Neoplasms, Triple Negative Breast Neoplasms, Hematology, breast cancer, SDG 3 - Good Health and Well-being, Oncology, Humans, Female, Genetic Predisposition to Disease, cancer susceptibility genes, whole-exome sequencing, Rare variant burden testing, Germ-Line Mutation, Retrospective Studies, genetic susceptibility
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المؤلفون: Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles
المصدر: American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Nonsynonymous substitution, Heterozygote, phenotype, Developmental Disabilities, genotype, Dwarfism, Biology, Article, naive Bayes, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Similarity (network science), developmental disease, Exome Sequencing, Genotype, Genetics, medicine, Humans, tSNE, Exome, Genetic Predisposition to Disease, Child, Gene, Allele frequency, Genetics (clinical), Spectrin, Bayes Theorem, medicine.disease, Repressor Proteins, Developmental disorder, 030104 developmental biology, Mutation, Mutation (genetic algorithm), Female, 030217 neurology & neurosurgery
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https://doi.org/10.1016/j.ajhg.2019.09.015 -
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المؤلفون: Z. Ojaghi-Haghighi, A. Mostafavi, H. Moladoust, F. Noohi, M. Maleki, M. Esmaeilzadeh, N. Samiei, S. Hosseini, R. Jasaityte, A. Teske, P. Claus, B. Verheyden, F. Rademakers, J. D'hooge, A. Patrianakos, A. Zacharaki, A. Kalogerakis, E. Nyktari, P. Maniatakis, F. Parthenakis, P. Vardas, J. M. Hilde, I. Skjoerten, S. Humerfelt, V. Hansteen, M. Melsom, J. Hisdal, K. Steine, R. Ippolito, P. Gripari, D. Muraru, R. Esposito, G. Kocabay, G. Tamborini, M. Galderisi, F. Maffessanti, L. Badano, M. Pepi, S. Yurdakul, F. Oner, T. Sahin, B. Avci, Y. Tayyareci, H. Direskeneli, S. Aytekin, T. Filali, B. Jedaida, D. Lahidheb, M. Gommidh, H. Mahfoudhi, N. Hajlaoui, R. Dahmani, W. Fehri, H. Haouala, V. Andova, L. Georgievska-Ismail, E. Srbinovska-Kostovska, Y. Gardinger, J. Joanna Hlebowicz, O. Ola Bjorgell, M. Magnus Dencker, M.-T. Liao, C.-T. Tsai, J.-L. Lin, K. Piestrzeniewicz, K. Luczak, M. Maciejewski, J. Komorowski, J. Jankiewicz-Wika, J. Drozdz, M. F. Ismail, A. Alasfar, M. Elassal, S. El-Sayed, M. Ibraheim, P. Dobrowolski, A. Klisiewicz, E. Florczak, A. Prejbisz, E. Szwench, J. Rybicka, A. Januszewicz, P. Hoffman, M. Santos Furtado, K. Nogueira, A. Arruda, A. C. Rodrigues, F. Carvalho, M. Silva, A. Cardoso, E. Lira-Filho, J. Pinheiro, J. L. Andrade, M. Mohammed, C. Zito, M. Cusma-Piccione, G. Di Bella, N. Taha, D. Zagari, A. Oteri, A. Quattrone, I. Boretti, S. Carerj, O. Obremska, B. Boratynska, P. Poczatek, Z. Zon, M. Magott, K. Klinger, O. Szenczi, Z. Szelid, P. Soos, Z. Bagyura, E. Edes, P. Jozan, B. Merkely, J. Ahn, D. Kim, D. Jeon, I. Kim, F. Baeza Garzon, M. Delgado, D. Mesa, M. Ruiz, J. S. De Lezo, M. Pan, C. Leon, F. Castillo, M. Morenate, F. Toledano, L. Zhong, E. Lim, N. Shanmugam, S. Law, B. Ong, K. Katwadi, R. Tan, Y. Chua, R. Liew, Z. Ding, H. Von Bibra, C. Leclerque, T. Schuster, P.-M. Schumm-Draeger, M. Bonios, A. Kaladaridou, O. Papadopoulou, A. Tasoulis, C. Pamboucas, A. Ntalianis, J. Nanas, S. Toumanidis, D. Silva, N. Cortez-Dias, P. Carrilho-Ferreira, R. Placido, C. Jorge, C. Calisto, S. Robalo Martins, J. Carvalho De Sousa, F. Pinto, A. Nunes Diogo, M. Przewlocka-Kosmala, A. Orda, B. Karolko, A. Mysiak, W. Kosmala, S. Moral Torres, J. Rodriguez-Palomares, V. Pineda, D. Gruosso, A. Evangelista, D. Garcia-Dorado, J. Figueras, E. Cambronero, M. J. Corbi, A. Valle, J. Cordoba, C. Llanos, M. Fernandez, I. Lopez, V. Hidalgo, M. Barambio, J. Jimenez, A. D'andrea, L. Riegler, R. Cocchia, M. Russo, E. Bossone, R. Calabro, A. Iniesta Manjavacas, S. Valbuena Lopez, T. Lopez Fernandez, S. Garcia-Blas, F. De Torres Alba, J. G. De Diego, U. Ramirez Valdiris, J. Mesa Garcia, M. Moreno Yanguela, J. Lopez-Sendon, B. Logstrup, H. Andersen, L. Thuesen, E. Christiansen, K. Terp, K. Klaaborg, S. Poulsen, A. Cacicedo, S. Velasco, U. Aguirre, J. Onaindia, I. Rodriguez, G. Oria, A. Subinas, G. Zugazabeitia, A. Romero, E. Laraudogoitia Zaldumbide, S. Weisz, J. Magne, R. Dulgheru, M. Rosca, L. Pierard, P. Lancellotti, V. Auffret, E. Donal, M. Bedossa, D. Boulmier, M. Laurent, J. Verhoye, H. Le Breton, S. Van Hall, T. Herbrand, U. Ketterer, S. Keymel, Y. Boering, T. Rassaf, C. Meyer, T. Zeus, M. Kelm, J. Balzer, M. Floria, S. Seldrum, M. Mariciuc, G. Laurence, M. Buche, P. Eucher, Y. Louagie, J. Jamart, B. Marchandise, E. Schroeder, A. Venkatesh, A. Sahlen, J. Johnson, L. Brodin, R. Winter, K. Shahgaldi, A. Manouras, L. Fusini, M. Muratori, F. Alamanni, A. Bartorelli, C. Ferrari, E. Caiani, E. Yaroslavskaya, V. Kuznetsov, G. Pushkarev, D. Krinochkin, I. Zyrianov, C. Ciobotaru, Y. Kobayashi, K. Yamamoto, E. Hirose, A. Hirohata, T. Ohe, P. Jhund, T. Cunningham, V. Murday, I. Findlay, P. Sonecki, I. Rangel, C. Sousa, A. Goncalves, A. Correia, A. Vigario, E. Martins, J. Silva-Cardoso, F. Macedo, M. Maciel, D. Lovric, J. Samardzic, D. Milicic, V. Reskovic, Z. Baricevic, I. Ivanac, J. Separovic Hanzevacki, K. Kim, J. Song, H. Jeong, H. Yoon, Y. Ahn, M. Jeong, J. Cho, J. Park, J. Kang, A. Iorio, B. Pinamonti, M. Bobbo, M. Merlo, G. Barbati, L. Massa, G. Faganello, A. Di Lenarda, G. Sinagra, F. Heggemann, K. Hamm, F. Streitner, T. Sueselbeck, T. Papavassiliu, M. Borggrefe, D. Haghi, F. Ferreira, A. Galrinho, R. Soares, L. Branco, J. Abreu, J. Feliciano, A. Papoila, M. Alves, A. Leal, R. Ferreira, A. Reynaud, L. H. Lund, E. Oger, E. Drouet, C. Hage, F. Bauer, C. Linde, J. Daubert, F. Schnell, P. Lentz, G. Kervio, G. Leurent, P. Mabo, F. Carre, A. Rodrigues, M. Roque, D. Becker, S. Barros, F. Kay, T. Emerick, P. Sampaio-Barros, J. Andrade, S. Yamada, K. Okada, H. Iwano, H. Nishino, M. Nakabachi, S. Yokoyama, S. Kaga, T. Mikami, H. Tsutsui, R. Mincu, S. Magda, S. Dumitrache Rujinski, T. Constantinescu, S. Mihaila, A. Ciobanu, M. Florescu, D. Vinereanu, T. Ashcheulova, O. Kovalyova, E. Ardeleanu, D. Gurgus, A. Gruici, R. Suciu, I. Ana, L. Bergenzaun, H. Ohlin, P. Gudmundsson, R. Willenheimer, M. Chew, A. Charalampopoulos, L. Howard, R. Davies, W. Gin-Sing, I. Tzoulaki, I. Grapsa, S. Gibbs, P. Massabuau, L. Weinert, O. Lairez, M. Berry, M. Sotaquira, P. Vaida, R. Lang, I. Khan, D. Waterhouse, S. Asegdom, M. Alqaseer, D. Foley, B. Mcadam, P. Colonna, E. Michelotto, W. Genco, M. Rubino, S. Pugliese, A. Belfiore, M. Sorino, M. Trisorio Liuzzi, G. Antonelli, G. Palasciano, A. Duszanska, I. Skoczylas, W. Streb, T. Kukulski, L. Polonski, Z. Kalarus, A. Fleig, K. Seitz, S. Secades, M. Martin, C. Corros, M. Rodriguez, J. De La Hera, A. Garcia, E. Velasco, E. Fernandez, V. Barriales, J. Lambert, D. R. Zwas, S. Hoss, D. Leibowitz, R. Beeri, C. Lotan, D. Gilon, K. Wierzbowska-Drabik, N. Roszczyk, M. Sobczak, M. Plewka, L. Chrzanowski, P. Lipiec, J. Kasprzak, K. Wita, K. Mizia-Stec, W. Wrobel, E. Plonska-Gosciniak, T. Pinho, Y. Wang, H. Houle, A. J. Madureira, J. Zamorano, M. J. Maciel, R. Ancona, S. Comenale Pinto, P. Caso, M. Coppola, O. Rapisarda, R. Calabro', R. Cadenas Chamorro, T. Lopez, J. Gomez, M. Moreno, P. Salinas, C. Jimenez Rubio, S. Valbuena, A. Manjavacas, F. De Torres, T. Vaugrenard, O. Huttin, A. Rouge, J. Schwartz, P. Zinzius, B. Popovic, J. Sellal, E. Aliot, Y. Juilliere, C. Selton-Suty, J. Looi, A. Lee, M. Hsiung, W. Song, R. Wong, M. J. Underwood, F. Fang, Q. Lin, Y. Lam, C. Yu, A. Vitarelli, B. Nguyen, L. Capotosto, G. D-Alessandro, M. D-Ascanio, A. Rafique, E. Gang, F. Barilla, R. Siegel, A. Kydd, F. Khan, W. Watson, L. Mccormick, M. Virdee, D. Dutka, S. Ranjbar, M. Karvandi, S. Hassantash, J. Grapsa, I. Efthimiadis, T. Pakrashi, D. Dawson, P. Punjabi, P. Nihoyannopoulos, M. Henein, S. Soderberg, E. Tossavainen, P. Lindqvist, H. Bellsham-Revell, A. Bell, O. Miller, J. Simpson, E. Altekin, M. Kucuk, A. Yanikoglu, S. Karakas, A. Er, D. Ozel, C. Ermis, I. Demir, G. Bajraktari, G. Di Salvo, L. Baldini, F. Del Gaizo, A. Rea, V. Pergola, G. Pacileo, B. Fadel, J.-S. Seo, G.-N. Choi, H.-Y. Jin, S.-H. Seol, J.-S. Jang, T.-H. Yang, D.-K. Kim, D.-S. Kim, E. Papadopoulou, S. Hatzidou, J. Agrios, C. Pamboukas, A. Antoniou, P. Gargiulo, S. Dellegrottaglie, D. Bruzzese, O. Scala, C. D'amore, D. Ruggiero, C. Marciano, E. Vassallo, E. Pirozzi, P. Perrone Filardi, V. Mor-Avi, N. Kachenoura, J. Lodato, S. Port, S. Chandra, B. Freed, N. Bhave, B. Newby, A. Patel, G. Dwivedi, M. Alam, K. Boczar, B. Chow, G. Staskiewicz, E. Czekajska-Chehab, S. Uhlig, A. Tomaszewski, J. Przegalinski, R. Maciejewski, A. Drop, G. Di Giammarco, C. Canosa, M. Foschi, G. Liberti, M. Bedir, D. Marinelli, S. Masuyama, R. Rabozzi, S. Vijayan, H. Miller, R. Muthusamy, S. Smith, L. Gargani, P. Pang, E. Davis, A. Schumacher, R. Sicari, E. Picano, A. Chmiel, M. Mizia, M. Haberka, K. Gieszczyk, A. Sikora - Puz, B. Lasota, O. Trojnarska, S. Grajek, Z. Gasior, A. Koumoulidis, I. Vlasseros, D. Tousoulis, V. Katsi, A. Avgeropoulou, M. Divani, C. Stefanadis, I. Kallikazaros
المصدر: European Heart Journal - Cardiovascular Imaging. 13:i50-i72
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Cardiology, medicine, Radiology, Nuclear Medicine and imaging, General Medicine, Function (mathematics), Cardiology and Cardiovascular Medicine, Independent predictor, business, Ventricular geometry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b8d873fe5cbeb979bac7a05acd4167c2
https://doi.org/10.1093/ehjci/jes255 -
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المؤلفون: Fiona Douglas, Louise Izatt, Fiona Lalloo, Patrick J. Morrison, V.K. Ajith Kumar, Shern L. Chew, D. Gareth Evans, Emma R. Woodward, A. Brew Atkinson, Tom L. Blundell, V Murday, Simon Aylwin, Ruth Armstrong, Christopher J. Ricketts, Trevor Cole, Umasuthan Srirangalingam, Eamonn R. Maher, Gail Kirby, Nicola Bradshaw, Steve Ball, Julia R. Forman, Eleanor Rattenberry, Jackie Cook, John M. C. Connell, Pip Killick, Shirley Hodgson, Fiona Macdonald
المصدر: Human Mutation. 31:41-51
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, SDHB, DNA Mutational Analysis, Adrenal Gland Neoplasms, Pheochromocytoma, Biology, Paraganglioma, Young Adult, Germline mutation, Internal medicine, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Germ-Line Mutation, Genetics (clinical), Aged, Middle Aged, medicine.disease, Penetrance, Succinate Dehydrogenase, Phenotype, Mitochondrial respiratory chain, Endocrinology, Head and Neck Neoplasms, Child, Preschool, Cancer research, Female, SDHD
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المؤلفون: V. Murday
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Colorectal cancer, business.industry, Internal medicine, medicine, Family history, medicine.disease, business, Preventive healthcare
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::75e48e02abedeae03cf6e426eabb0871
https://doi.org/10.1159/000418698 -
10
المؤلفون: Maggie Watson, S. Ebbs, Kathryn M. Kash, V Murday, J. Homewood, Rosalind A. Eeles
المصدر: Genetic Testing. 9:167-174
مصطلحات موضوعية: Adult, medicine.medical_specialty, genetic structures, Genetic counseling, Breast Neoplasms, Genetic Counseling, Risk Assessment, Breast cancer, medicine, Humans, Mass Screening, Physical Examination, Genetics (clinical), Risk management, Aged, business.industry, Breast Self-Examination, Cancer, Middle Aged, medicine.disease, Mental health, Risk perception, Family medicine, Physical therapy, Female, business, Mammography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3399f975889262791cd405d256614100
https://doi.org/10.1089/gte.2005.9.167