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1Academic Journal
المؤلفون: Sandell, S, Schuit, R J L, Bunyan, D J
المصدر: British Journal of Cancer ; volume 108, issue 2, page 438-441 ; ISSN 0007-0920 1532-1827
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2Academic Journal
المؤلفون: O'Donnell-Luria A. H., Pais L. S., Faundes V., Wood J. C., Sveden A., Luria V., Abou Jamra R., Accogli A., Amburgey K., Anderlid B. M., Azzarello-Burri S., Basinger A. A., Bianchini C., Bird L. M., Buchert R., Carre W., Ceulemans S., Charles P., Cox H., Culliton L., Curro A., McRae J. F., Clayton S., Fitzgerald T. W., Kaplanis J., Prigmore E., Rajan D., Sifrim A., Aitken S., Akawi N., Alvi M., Ambridge K., Barrett D. M., Bayzetinova T., Jones P., Jones W. D., King D., Krishnappa N., Mason L. E., Singh T., Tivey A. R., 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 A. P., Bitner-Glindzicz M., Blair E., Blyth M., Bohanna D., Bourdon L., Bourn D., Bradley L., Brady A., Brent S., Brewer C., Brunstrom K., Bunyan D. J., 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 M. N., 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 V. K. A., Lachlan K., Lam W., Lampe A., Langman C., Lees M., Lim D., Longman C., Lowther G., Lynch S. A., 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 D. J., 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 M. J., Patel C., Paterson J., Payne S., Perrett D., Phipps J., Pilz D. T., 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 G. J., Sweeney E., Tatton-Brown K., Taylor C., Taylor R., Tein M., Temple I. 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 H. V., Wright C. F., FitzPatrick D. R., Barrett J. C., Hurles M. E., Demurger F., Dowling J. J., Duban-Bedu B., Dubourg C., Eiset S. E., Escobar L. F., Ferrarini A., Haack T. B., Hashim M., Heide S., Helbig K. L., Helbig I., Heredia R., Heron D., Isidor B., Jonasson A. R., Joset P., Keren B., Kok F., Kroes H. Y., Lavillaureix A., Lu X., Maas S. M., Maegawa G. H. B., Marcelis C. L. M., Mark P. R., Masruha M. R., McLaughlin H. M., McWalter K., Melchinger E. U., Mercimek-Andrews S., Nava C., Pendziwiat M., Person R., Ramelli G. P., Ramos L. L. P., 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 J. C., Telegrafi A., Thiffault I., Trauner D. A., van der Linden H., van Koningsbruggen S., Villard L., Vogel I., Weber Y. G., Wentzensen I. M., Widjaja E., Zak J., Baxter S., Rodan L. H.
المساهمون: O'Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., Bianchini, C., Bird, L. M., Buchert, R., Carre, W., Ceulemans, S., Charles, P., Cox, H., Culliton, L., Curro, A., Mcrae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., Ambridge, K., Barrett, D. M., Bayzetinova, T., Jones, P., Jones, W. D., King, D., Krishnappa, N., Mason, L. E., Singh, T., Tivey, A. R., 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, A. P., Bitner-Glindzicz, M., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Bradley, L., Brady, A., Brent, S., Brewer, C., Brunstrom, K., Bunyan, D. J., 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, M. N., 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.
مصطلحات موضوعية: autism, epilepsy, epileptic encephalopathy, global developmental delay, H3K4 methylation, intellectual disability, KMT2E, neurodevelopmental disorder, Adolescent, Adult, Child, Preschool, DNA-Binding Protein, Female, Haploinsufficiency, Human, Infant, Male, Pedigree, Phenotype, Young Adult, Genetic Variation, Heterozygote
Relation: info:eu-repo/semantics/altIdentifier/pmid/31079897; info:eu-repo/semantics/altIdentifier/wos/WOS:000470240000015; volume:104; issue:6; firstpage:1210; lastpage:1222; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/1126831; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066447016
الاتاحة: http://hdl.handle.net/11365/1126831
https://doi.org/10.1016/j.ajhg.2019.03.021 -
3Academic Journal
المؤلفون: Bakrania, P, Robinson, D O, Bunyan, D J, Salt, A, Martin, A, Crolla, J A, Wyatt, A, Fielder, A, Ainsworth, J, Moore, A, Read, S, Uddin, J, Laws, D, Pascuel-Salcedo, D, Ayuso, C, Allen, L, Collin, J R O, Ragge, N K
مصطلحات موضوعية: Clinical science - Extended reports
وصف الملف: text/html
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4Academic Journal
المؤلفون: Jones, A V, Bunyan, D J, Cross, N C P
المصدر: Leukemia ; volume 21, issue 12, page 2561-2563 ; ISSN 0887-6924 1476-5551
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5Academic Journal
المؤلفون: Bunyan, D J, Eccles, D M, Sillibourne, J, Wilkins, E, Thomas, N Simon, Shea-Simonds, J, Duncan, P J, Curtis, C E, Robinson, D O, Harvey, J F, Cross, N C P
المصدر: British Journal of Cancer ; volume 91, issue 6, page 1155-1159 ; ISSN 0007-0920 1532-1827
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6Academic Journal
المؤلفون: Coleman, M G, Gough, A C, Bunyan, D J, Braham, D, Eccles, D M, Primrose, J N
المصدر: British Journal of Cancer ; volume 85, issue 10, page 1486-1491 ; ISSN 0007-0920 1532-1827
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7Academic Journal
المؤلفون: Rowe, D., Cotterill, S. J., Ross, F. M., Bunyan, D. J., Vickers, S. J., Bryon, J., McMullan, D. J., Griffiths, M. J., Reilly, J. T., Vandenberghe, E. A., Wilson, G., Watmore, A. E., Bown, N. P.
المصدر: British Journal of Haematology ; volume 111, issue 4, page 1051-1056 ; ISSN 0007-1048 1365-2141
الاتاحة: http://dx.doi.org/10.1111/j.1365-2141.2000.02474.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2141.2000.02474.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2141.2000.02474.x -
8Academic Journal
المؤلفون: Bunyan, D J, Shea-Simonds, J, Reck, A C, Finnis, D, Eccles, D M
مصطلحات موضوعية: Research Article
وصف الملف: text/html
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9Academic Journal
المؤلفون: 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, Krishnappa, N, Mason, L. E, Middleton, A, Miller, R, Prigmore, E, Rajan, D, Sifrim, Alejandro, Tivey, A. R, Ahmed, M, Akawi, N, Andrews, R, Anjum, U, Archer, H, Armstrong, R, Balasubramanian, M, Banerjee, R, Baralle, D, Batstone, P, Baty, D, Bennett, C, Berg, J, 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, 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, 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, Procter, 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, Schweier, S, Scott, C, Selby, A, Seller, A, Sequeira, C, Shannon, N, Shanrif, 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, 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, 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
Relation: Nature vol:519 issue:7542 pages:223-+; https://lirias.kuleuven.be/handle/123456789/570703
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10Academic Journal
المؤلفون: 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., Baralle, 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, 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., Gomes Pereira, S. L., 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., Procter, 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.
Relation: Fitzgerald, T. W. et al. (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature , 519(7542), pp. 223-228. (doi:10.1038/nature14135 ) (PMID:25533962)
الاتاحة: http://eprints.gla.ac.uk/104808/
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11Academic Journal
المؤلفون: Mackay, D. J. G, Hahnemann, J. M. D., Boonen, S. E., Poerksen, S., Bunyan, D. J., White, H. E., Durston, V. J., Thomas, N. S., Robinson, D. O., Shield, J. P. H, Clayton-Smith, J., Temple, I. K.
المصدر: Human Genetics ; volume 119, issue 1-2, page 179-184 ; ISSN 0340-6717 1432-1203
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12Academic Journal
المؤلفون: Bakrania, P., Martin, A., Wyatt, A., Ragge, N. K., Robinson, D. O., Bunyan, D. J., Crolla, J. A., Read, S., Salt, A., Moore, A., Uddin, J., Collin, J. R. O., Rogge, N. K., Fielder, A., Ainsworth, J., Laws, D., Pascuel-Salcedo, D., Ayuso, C., Allen, L.
المصدر: British Journal of Ophthalmology; Nov2007, Vol. 91 Issue 11, p1471-1476, 6p
مصطلحات موضوعية: EYE abnormalities, VISION disorders, RETINAL degeneration, GENETIC disorders, OPHTHALMOLOGY
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13Academic Journal
المؤلفون: Jones, A. V., Bunyan, D. J., Cross, N. C. P.
المصدر: Leukemia (08876924); Dec2007, Vol. 21 Issue 12, p2561-2563, 3p, 1 Graph
مصطلحات موضوعية: LETTERS to the editor, MYELOPROLIFERATIVE neoplasms
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14Academic Journal
المؤلفون: Eccles, D M (AUTHOR), Bunyan, D J (AUTHOR), Needell, J (AUTHOR), Thompson, M (AUTHOR)
المصدر: Lancet. 6/24/1995, Vol. 345 Issue 8965, p1643-1643. 1p.
مصطلحات موضوعية: ONCOLOGIC surgery, CANCER, COLON tumors, DISEASE complications, GENES, GENETIC counseling, METASTASIS, GENETIC mutation, TREATMENT effectiveness, ACQUISITION of data, ADENOMATOUS polyposis coli
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15Academic Journal
المؤلفون: Sandell, Stacey, Bunyan, D. J., Durston, V. J., White, H., Bullman, H., Connarty, M., Thomas, N. S., Harvey, J. F.
المصدر: Journal of Medical Genetics; Sep2005, Vol. 42, pS107-S107, 1/4p
مصطلحات موضوعية: METHYLATION
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16Academic Journal
المؤلفون: Skinner, Alison, Ashton, E. J., Sillibourne, J., Brown, T., Collins, A. L., Bunyan, D. J.
المصدر: Journal of Medical Genetics; Sep2005, Vol. 42, pS100-S100, 1/4p
مصطلحات موضوعية: GENETIC mutation