المؤلفون: Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Berges M, Glasgow RIC, Thompson K, Olahova M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H, Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG

المصدر: American Journal of Human Genetics, 2 January 2025

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/303503; https://eprints.ncl.ac.uk/fulltext.aspx?url=303503/922AD009-FB94-4872-A518-4DC14C02B1D6.pdf&pub_id=303503

الاتاحة: https://eprints.ncl.ac.uk/303503

المؤلفون: Best, S, Lord, J, Roche, M, Watson, CM, Poulter, JA, Bevers, RPJ, Stuckey, A, Szymanska, K, Ellingford, JM, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, CF, Johnson, CA, Wheway, G, Genomics England Research Consortium

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/178481/19/737.full.pdf; Best, S, Lord, J, Roche, M et al. (13 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of Medical Genetics, 59 (8). pp. 737-747. ISSN 0022-2593

الاتاحة: https://eprints.whiterose.ac.uk/178481/
https://eprints.whiterose.ac.uk/178481/19/737.full.pdf

المؤلفون: Wood, KA, Ellingford, JM, Eden, J, Thomas, HB, O'Keefe, RT, Hopton, C, Newman, WG

Relation: https://ora.ox.ac.uk/objects/uuid:9bb89e4d-404a-4632-970b-27b70ef74e7b; https://doi.org/10.3390/cardiogenetics11020009

الاتاحة: https://doi.org/10.3390/cardiogenetics11020009
https://ora.ox.ac.uk/objects/uuid:9bb89e4d-404a-4632-970b-27b70ef74e7b

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, D, Smith, KR, Martin, A, Thomas, EA, McDonagh, EM, Cipriani, V, Ellingford, JM, Arno, G, Tucci, A, Vandrovcova, J, Chan, G, Williams, HJ, Ratnaike, T, Wei, W, Stirrups, K, Ibanez, K, Moutsianas, L, Wielscher, M, Need, A, Barnes, MR, Vestito, L, Buchanan, J, Wordsworth, S, Ashford, S, Rehmström, K, Li, E, Fuller, G, Twiss, P, Spasic-Boskovic, O, Halsall, S, Floto, RA, Poole, K, Wagner, A, Mehta, SG, Gurnell, M, Burrows, N, James, R, Penkett, C, Dewhurst, E, Gräf, S, Mapeta, R, Kasanicki, M, Haworth, A, Savage, H, Babcock, M, Reese, MG, Bale, M, Baple, E, Boustred, C, Brittain, H, de Burca, A, Bleda, M, Devereau, A, Halai, D, Haraldsdottir, E, Hyder, Z, Kasperaviciute, D, Patch, C, Polychronopoulos, D, Matchan, A, Sultana, R, Ryten, M, Tavares, ALT, Tregidgo, C, Turnbull, C, Welland, M, Wood, S, Snow, C, Williams, E, Leigh, S, Foulger, RE, Daugherty, LC, Niblock, O, Leong, IUS, Wright, CF, Davies, J, Crichton, C, Welch, J, Woods, K, Abulhoul, L, Aurora, P, Bockenhauer, D, Broomfield, A, Cleary, MA, Lam, T, Dattani, M, Footitt, E, Ganesan, V, Grunewald, S, Compeyrot-Lacassagne, S, Muntoni, F, Pilkington, C, Quinlivan, R, Thapar, N, Wallis, C, Wedderburn, LR, Worth, A, Bueser, T, Compton, C, Deshpande, C, Fassihi, H, Haque, E, Izatt, L, Josifova, D, Mohammed, S, Robert, L, Rose, S, Ruddy, D, Sarkany, R, Say, G, Shaw, AC, Wolejko, A, Habib, B, Burns, G, Hunter, S, Grocock, RJ, Humphray, SJ, Robinson, PN, Haendel, M, Simpson, MA, Banka, S, Clayton-Smith, J, Douzgou, S, Hall, G, Thomas, HB, O'Keefe, RT, Michaelides, M, Moore, AT, Malka, S, Pontikos, N, Browning, AC, Straub, V, Gorman, GS, Horvath, R, Quinton, R, Schaefer, AM, Yu-Wai-Man, P, Turnbull, DM, McFarland, R, Taylor, RW, O'Connor, E, Yip, J, Newland, K, Morris, HR, Polke, J, Wood, NW, Campbell, C, Camps, C, Gibson, K, Koelling, N, Lester, T, Németh, AH, Palles, C, Patel, S, Roy, NBA, Sen, A, Taylor, J, Cacheiro, P, Jacobsen, JO, Seaby, EG, Davison, V, Chitty, L, Douglas, A, Naresh, K, McMullan, D, Ellard, S, Temple, IK, Mumford, AD, Wilson, G, Beales, P, Bitner-Glindzicz, M, Black, G, Bradley, JR, Brennan, P, Burn, J, Chinnery, PF, Elliott, P, Flinter, F, Houlden, H, Irving, M, Newman, W, Rahman, S, Sayer, JA, Taylor, JC, Webster, AR, Wilkie, AOM, Ouwehand, WH, Raymond, FL, Chisholm, J, Hill, S, Bentley, D, Scott, RH, Fowler, T, Rendon, A, Caulfield, M

المصدر: New England Journal of Medicine , 385 (20) pp. 1868-1880. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf; https://discovery.ucl.ac.uk/id/eprint/10138417/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf
https://discovery.ucl.ac.uk/id/eprint/10138417/

المؤلفون: Rowlands, C, Thomas, HB, Lord, J, Wai, HA, Arno, G, Beaman, G, Sergouniotis, P, Gomes-Silva, B, Campbell, C, Gossan, N, Hardcastle, C, Webb, K, O'Callaghan, C, Hirst, RA, Ramsden, S, Jones, E, Clayton-Smith, J, Webster, AR, Genomics England Research Consortium, Douglas, AGL, O'Keefe, RT, Newman, WG, Baralle, D, Black, GCM, Ellingford, JM

المصدر: Scientific Reports , 11 , Article 20607. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10137922/1/s41598-021-99747-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10137922/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10137922/1/s41598-021-99747-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10137922/

المؤلفون: Ellingford, JM, Hufnagel, RB, Arno, G

المصدر: Genes , 11 (11) , Article 1274. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10119817/1/genes-11-01274.pdf; https://discovery.ucl.ac.uk/id/eprint/10119817/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10119817/1/genes-11-01274.pdf
https://discovery.ucl.ac.uk/id/eprint/10119817/

المؤلفون: Ellingford, JM, Horn, B, Campbell, C, Arno, G, Barton, S, Tate, C, Bhaskar, S, Sergouniotis, PI, Taylor, RL, Carss, KJ, Raymond, LFL, Michaelides, M, Ramsden, SC, Webster, AR, Black, GCM

المصدر: Journal of Medical Genetics , 55 (2) pp. 114-121. (2018)

مصطلحات موضوعية: Copy-number variation, inherited retinal disease, molecular genetics, next-generation sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10034164/1/Michaelides_114.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10034164/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10034164/1/Michaelides_114.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10034164/

المؤلفون: Ellingford, JM, Campbell, C, Barton, S, Bhaskar, S, Gupta, S, Taylor, RL, Sergouniotis, PI, Horn, B, Lamb, JA, Michaelides, M, Webster, AR, Newman, WG, Panda, B, Ramsden, SC, Black, GCM

المصدر: European Journal of Human Genetics , 25 (6) pp. 719-724. (2017)

وصف الملف: text; image

Relation: https://discovery.ucl.ac.uk/id/eprint/1550022/1/Michaelides_Ellingford-et-al-revised-2.pdf; https://discovery.ucl.ac.uk/id/eprint/1550022/7/Michaelides_Table%201%20-%20Key%20factor%20analysis%20-%20REVISED.pdf; https://discovery.ucl.ac.uk/id/eprint/1550022/12/Michaelides_Figure-1-study-design-GREY.jpg; https://discovery.ucl.ac.uk/id/eprint/1550022/17/Michaelides_Figure-2-FBN1-GREY.jpg; https://discovery.ucl.ac.uk/id/eprint/1550022/22/Michaelides_Figure-3-dx-and-simulations-GREY.jpg; https://discovery.ucl.ac.uk/id/eprint/1550022/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1550022/1/Michaelides_Ellingford-et-al-revised-2.pdf
https://discovery.ucl.ac.uk/id/eprint/1550022/7/Michaelides_Table%201%20-%20Key%20factor%20analysis%20-%20REVISED.pdf
https://discovery.ucl.ac.uk/id/eprint/1550022/12/Michaelides_Figure-1-study-design-GREY.jpg
https://discovery.ucl.ac.uk/id/eprint/1550022/17/Michaelides_Figure-2-FBN1-GREY.jpg
https://discovery.ucl.ac.uk/id/eprint/1550022/22/Michaelides_Figure-3-dx-and-simulations-GREY.jpg
https://discovery.ucl.ac.uk/id/eprint/1550022/

المؤلفون: Taylor, RL, Handley, MT, Waller, S, Campbell, C, Urquhart, J, Meynert, AM, Ellingford, JM, Donnelly, D, Wilcox, G, Lloyd, IC, Mundy, H, FitzPatrick, DR, Deshpande, C, Clayton-Smith, J, Black, GC

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/141264/13/i1552-5783-58-1-594.pdf; Taylor, RL, Handley, MT orcid.org/0000-0001-7200-747X , Waller, S et al. (12 more authors) (2017) Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Investigative Ophthalmology & Visual Science, 58 (1). pp. 594-603. ISSN 0146-0404

الاتاحة: https://eprints.whiterose.ac.uk/141264/
https://eprints.whiterose.ac.uk/141264/13/i1552-5783-58-1-594.pdf

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, D, Smith, KR, Martin, A, Thomas, EA, McDonagh, EM, Cipriani, V, Ellingford, JM, Arno, G, Tucci, A, Vandrovcova, J, Chan, G, Williams, HJ, Ratnaike, T, Wei, W, Stirrups, K, Ibanez, K, Moutsianas, L, Wielscher, M, Need, A, Barnes, MR, Vestito, L, Buchanan, J, Wordsworth, S, Ashford, S, Rehmström, K, Li, E, Fuller, G, Twiss, P, Spasic-Boskovic, O, Halsall, S, Floto, RA, Poole, K, Wagner, A, Mehta, SG, Gurnell, M, Burrows, N, James, R, Penkett, C, Dewhurst, E, Gräf, S, Mapeta, R, Kasanicki, M, Haworth, A, Savage, H, Babcock, M, Reese, MG, Bale, M, Baple, E, Boustred, C, Brittain, H, de Burca, A, Bleda, M, Devereau, A, Halai, D, Haraldsdottir, E, Hyder, Z, Kasperaviciute, D, Patch, C, Polychronopoulos, D, Matchan, A, Sultana, R, Ryten, M, Tavares, ALT, Tregidgo, C, Turnbull, C, Welland, M, Wood, S, Snow, C, Williams, E, Leigh, S, Foulger, RE, Daugherty, LC, Niblock, O, Leong, IUS, Wright, CF, Davies, J, Crichton, C, Welch, J, Woods, K, Abulhoul, L, Aurora, P, Bockenhauer, D, Broomfield, A, Cleary, MA, Lam, T, Dattani, M, Footitt, E, Ganesan, V, Grunewald, S, Compeyrot-Lacassagne, S, Muntoni, F, Pilkington, C, Quinlivan, R, Thapar, N, Wallis, C, Wedderburn, LR, Worth, A, Bueser, T, Compton, C, Deshpande, C, Fassihi, H, Haque, E, Izatt, L, Josifova, D, Mohammed, S, Robert, L, Rose, S, Ruddy, D, Sarkany, R, Say, G, Shaw, AC, Wolejko, A, Habib, B, Burns, G, Hunter, S, Grocock, RJ, Humphray, SJ, Robinson, PN, Haendel, M, Simpson, MA, Banka, S, Clayton-Smith, J, Douzgou, S, Hall, G, Thomas, HB, O'Keefe, RT, Michaelides, M, Moore, AT, Malka, S, Pontikos, N, Browning, AC, Straub, V, Gorman, GS, Horvath, R, Quinton, R, Schaefer, AM, Yu-Wai-Man, P, Turnbull, DM, McFarland, R, Taylor, RW, O'Connor, E, Yip, J, Newland, K, Morris, HR, Polke, J, Wood, NW, Campbell, C, Camps, C, Gibson, K, Koelling, N, Lester, T, Németh, AH, Palles, C, Patel, S, Roy, NBA, Sen, A, Taylor, J, Cacheiro, P, Jacobsen, JO, Seaby, EG, Davison, V, Chitty, L, Douglas, A, Naresh, K, McMullan, D, Ellard, S, Temple, IK, Mumford, AD, Wilson, G, Beales, P, Bitner-Glindzicz, M, Black, G, Bradley, JR, Brennan, P, Burn, J, Chinnery, PF, Elliott, P, Flinter, F, Houlden, H, Irving, M, Newman, W, Rahman, S, Sayer, JA, Taylor, JC, Webster, AR, Wilkie, AOM, Ouwehand, WH, Raymond, FL, Chisholm, J, Hill, S, Bentley, D, Scott, RH, Fowler, T, Rendon, A, Caulfield, M

المساهمون: Turnbull, Clare

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

جغرافية الموضوع: United States

وصف الملف: Print; 1880; application/pdf

Relation: New England Journal of Medicine, 2021, 385 (20), pp. 1868 - 1880; https://repository.icr.ac.uk/handle/internal/5462

الاتاحة: https://repository.icr.ac.uk/handle/internal/5462
https://doi.org/10.1056/NEJMoa2035790

المؤلفون: Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmstrom K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Graf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Nemeth AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M

المصدر: New England Journal of Medicine, 11 November 2021

Relation: https://eprints.ncl.ac.uk/282326

الاتاحة: https://eprints.ncl.ac.uk/282326

المؤلفون: Smedley, D, Smith, KR, Martin, A, Thomas, EA, McDonagh, EM, Cipriani, V, Ellingford, JM, Arno, G, Tucci, A, Vandrovcova, J, Chan, G, Williams, HJ, Ratnaike, T, Wei, W, Stirrups, K, Ibanez, K, Moutsianas, L, Wielscher, M, Need, A, Barnes, MR, Vestito, L, Buchanan, J, Wordsworth, S, Ashford, S, Rehmström, K, Li, E, Fuller, G, Twiss, P, Spasic-Boskovic, O, Halsall, S, Floto, RA, Poole, K, Wagner, A, Mehta, SG, Gurnell, M, Burrows, N, James, R, Penkett, C, Dewhurst, E, Gräf, S, Mapeta, R, Kasanicki, M, Haworth, A, Savage, H, Babcock, M, Reese, MG, Bale, M, Baple, E, Boustred, C, Brittain, H, de Burca, A, Bleda, M, Devereau, A, Halai, D, Haraldsdottir, E, Hyder, Z, Kasperaviciute, D, Patch, C, Polychronopoulos, D, Matchan, A, Sultana, R, Ryten, M, Tavares, ALT, Tregidgo, C, Turnbull, C, Welland, M, Wood, S, Snow, C, Williams, E, Leigh, S, Foulger, RE, Daugherty, LC, Niblock, O, Leong, IUS, Wright, CF, Davies, J, Crichton, C, Welch, J, Woods, K, Abulhoul, L, Aurora, P, Bockenhauer, D, Broomfield, A, Cleary, MA, Lam, T, Dattani, M, Footitt, E, Ganesan, V, Grunewald, S, Compeyrot-Lacassagne, S, Muntoni, F, Pilkington, C, Quinlivan, R, Thapar, N, Wallis, C, Wedderburn, LR, Worth, A, Bueser, T, Compton, C, Deshpande, C, Fassihi, H, Haque, E, Izatt, L, Josifova, D, Mohammed, S, Robert, L, Rose, S, Ruddy, D, Sarkany, R, Say, G, Shaw, AC, Wolejko, A, Habib, B, Burns, G, Hunter, S, Grocock, RJ, Humphray, SJ, Robinson, PN, Haendel, M, Simpson, MA, Banka, S, Clayton-Smith, J, Douzgou, S, Hall, G, Thomas, HB, O’Keefe, RT, Michaelides, M, Moore, AT, Malka, S, Pontikos, N, Browning, AC, Straub, V, Gorman, GS, Horvath, R, Quinton, R, Schaefer, AM, Yu-Wai-Man, P, Turnbull, DM, McFarland, R, Taylor, RW, O’Connor, E, Yip, J, Newland, K, Morris, HR, Polke, J, Wood, NW, Campbell, C, Camps, C, Gibson, K, Koelling, N, Lester, T, Németh, AH, Palles, C, Patel, S, Roy, NBA, Sen, A, Taylor, J, Cacheiro, P, Jacobsen, JO, Seaby, EG, Davison, V, Chitty, L, Douglas, A, Naresh, K, McMullan, D, Ellard, S, Temple, IK, Mumford, AD, Wilson, G, Beales, P, Bitner-Glindzicz, M, Black, G, Bradley, JR, Brennan, P, Burn, J, Chinnery, PF, Elliott, P, Flinter, F, Houlden, H, Irving, M, Newman, W, Rahman, S, Sayer, JA, Taylor, JC, Webster, AR, Wilkie, AOM, Ouwehand, WH, Raymond, FL, Chisholm, J, Hill, S, Bentley, D, Scott, RH, Fowler, T, Rendon, A, Caulfield, M

وصف الملف: 1868-1880

Relation: New England Journal of Medicine, 385(20); https://doi.org/10.1056/nejmoa2035790; 212219/Z/18/Z; MC_UU_00015/9; MR/S005021/1; 21593; MR/R013926/1; 1R24OD011883; U54 HG006370; 5045/46; http://hdl.handle.net/10871/127777; New England Journal of Medicine

الاتاحة: http://hdl.handle.net/10871/127777
https://doi.org/10.1056/nejmoa2035790

المؤلفون: Ellingford, JM, Thomas, HB, Rowlands, C, Arno, G, Beaman, G, Gomes-Silva, B, Campbell, C, Gossan, N, Hardcastle, C, Webb, K, O'Callaghan, C, Hirst, RA, Consortium, Genomics England Research

المصدر: Ellingford , JM , Thomas , HB , Rowlands , C , Arno , G , Beaman , G , Gomes-Silva , B , Campbell , C , Gossan , N , Hardcastle , C , Webb , K , O'Callaghan , C , Hirst , RA & Consortium , G E R 2019 , ' Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders ' , bioRxiv . https://doi.org/10.1101/781088

الاتاحة: https://research.manchester.ac.uk/en/publications/c7f2304b-2017-44c6-9c8d-fd2d90bea083
https://doi.org/10.1101/781088
http://europepmc.org/abstract/PPR/PPR93882

المؤلفون: Evans, D Gareth R, van Veen, EM, Byers, HJ, Wallace, AJ, Ellingford, JM, Beaman, G, Santoyo-Lopez, J, Aitman, TJ, Eccles, DM, Lalloo, FI, Smith, MJ, Newman, WG

المساهمون: Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester

Relation: Evans DGR, van Veen E, Byers H, Wallace A, Ellingford J, Beaman G, et al. Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer. European Journal of Human Genetics. 2019;27:419-20; http://hdl.handle.net/10541/622553; European Journal of Human Genetics

الاتاحة: http://hdl.handle.net/10541/622553

المؤلفون: Bedoni, N, Haer-Wigman, L, Vaclavik, V, Tran, VH, Farinelli, P, Balzano, S, Royer-Bertrand, B, El-Asrag, ME, Bonny, O, Ikonomidis, C, Litzistorf, Y, Nikopoulos, K, Yioti, GG, Stefaniotou, MI, McKibbin, M, Booth, AP, Ellingford, JM, Black, GC, Toomes, C, Inglehearn, CF, Hoyng, CB, Bax, N, Klaver, Caroline, Thiadens, Alberta, Murisier, F, Schorderet, DF, Ali, M (Mehabat), Cremers, FPM, Andreasson, S, Munier, FL, Rivolta, C

المصدر: Bedoni , N , Haer-Wigman , L , Vaclavik , V , Tran , VH , Farinelli , P , Balzano , S , Royer-Bertrand , B , El-Asrag , ME , Bonny , O , Ikonomidis , C , Litzistorf , Y , Nikopoulos , K , Yioti , GG , Stefaniotou , MI , McKibbin , M , Booth , AP , Ellingford , JM , Black , GC , Toomes , C , Inglehearn , CF , Hoyng , CB , Bax , N , Klaver , C , Thiadens , A , Murisier , F ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR016001, name=EMC OR-01-60-01

الاتاحة: https://pure.eur.nl/en/publications/bffa6d8d-29a3-43eb-813b-046850b905ad