المؤلفون: Allen, S., Loong, L., Garrett, A., Torr, B., Durkie, M., Drummond, J., Callaway, A., Robinson, R., Burghel, G. J., Hanson, H., Field, J., McDevitt, T., McVeigh, T. P., Bedenham, T., Bowles, C., Bradshaw, K., Brooks, C., Butler, S., Del Rey Jimenez, J. C., Hawkes, L., Stinton, V., MacMahon, S., Owens, M., Palmer-Smith, S., Smith, K., Tellez, J., Valganon-Petrizan, M., Waskiewicz, E., Yau, M., Eccles, D. M., Tischkowitz, M., Goel, S., McRonald, F., Antoniou, A. C., Morris, E., Hardy, S., Turnbull, C.

مصطلحات موضوعية: Clinical Laboratory Techniques, Genetic Testing, Genetics, Genomics, Molecular Diagnostic Techniques

Relation: http://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=38154813; Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, et al. Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. J Med Genet. 2023.; Journal of medical genetics; https://hdl.handle.net/11287/623151

الاتاحة: https://hdl.handle.net/11287/623151
https://doi.org/10.1136/jmg-2023-109645

المؤلفون: Loong, L, Huntley, C, McRonald, F, Santaniello, F, Pethick, J, Torr, B, Allen, S, Tulloch, O, Goel, S, Shand, B, Rahman, T, Luchtenborg, M, Garrett, A, Barber, R, Bedenham, T, Bourn, D, Bradshaw, K, Brooks, C, Bruty, J, Burghel, GJ, Butler, S, Buxton, C, Callaway, A, Callaway, J, Drummond, J, Durkie, M, Field, J, Jenkins, L, McVeigh, TP, Mountford, R, Nyanhete, R, Petrides, E, Robinson, R, Scott, T, Stinton, V, Tellez, J, Wallace, AJ, Yarram-Smith, L, Sahan, K, Hallowell, N, Eccles, DM, Pharoah, P, Tischkowitz, M, Antoniou, AC, Evans, DG, Lalloo, F, Norbury, G, Burn, J, Morris, E, Hardy, S

Relation: https://ora.ox.ac.uk/objects/uuid:485ff0c5-b9d7-46f1-bc0e-33d5eac7d1e5; https://doi.org/10.1136/jmg-2022-108800

الاتاحة: https://doi.org/10.1136/jmg-2022-108800
https://ora.ox.ac.uk/objects/uuid:485ff0c5-b9d7-46f1-bc0e-33d5eac7d1e5

المؤلفون: Loong, L, Huntley, C, McRonald, F, Santaniello, F, Pethick, J, Torr, B, Allen, S, Tulloch, O, Goel, S, Shand, B, Rahman, T, Luchtenborg, M, Garrett, A, Barber, R, Bedenham, T, Bourn, D, Bradshaw, K, Brooks, C, Bruty, J, Burghel, GJ, Butler, S, Buxton, C, Callaway, A, Callaway, J, Drummond, J, Durkie, M, Field, J, Jenkins, L, McVeigh, TP, Mountford, R, Nyanhete, R, Petrides, E, Robinson, R, Scott, T, Stinton, V, Tellez, J, Wallace, AJ, Yarram-Smith, L, Sahan, K, Hallowell, N, Eccles, DM, Pharoah, P, Tischkowitz, M, Antoniou, AC, Evans, DG, Lalloo, F, Norbury, G, Morris, E, Burn, J, Hardy, S, Turnbull, C

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/194874/1/jmg-2022-108800.full.pdf; Loong, L, Huntley, C, McRonald, F et al. (48 more authors) (2022) Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records. Journal of Medical Genetics (JMG). ISSN 0022-2593

الاتاحة: https://eprints.whiterose.ac.uk/194874/
https://eprints.whiterose.ac.uk/194874/1/jmg-2022-108800.full.pdf

المؤلفون: Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O'Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Wright CF, FitzPatrick DR, Firth HV, Hurles ME

المصدر: Nature Communications, December 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/273115; https://eprints.ncl.ac.uk/fulltext.aspx?url=273115/A1C8A8B2-06CC-4C57-9D5D-5E2806D970F9.pdf&pub_id=273115

الاتاحة: https://eprints.ncl.ac.uk/273115

المؤلفون: Allen, S, Loong, L, Garrett, A, Tischkowitz, M, Bowles, C, Durkie, M, Butler, S, Turnbull, C, Valganon-Petrizan, M, Drummond, J, Waskiewicz, E, Jimenez, JC Del Rey, Antoniou, AC, Hanson, H, Stinton, V, Burghel, G, Goel, S, Smith, K, Macmahon, S, Callaway, A, Hawkes, L, Owens, M, Brooks, C, Hardy, S, Eccles, D, Bedenham, T, Robinson, R, Tellez, J, McDevitt, T, McVeigh, T, Morris, EJA, Torr, B, Bradshaw, K, Yau, M, Field, J, McRonald, F, Palmer-Smith, S

Relation: (2023) GLH-NDRS Centralised Data Submission Survey Results. Zenodo doi:10.5281/zenodo.8340397 [Dataset]

الاتاحة: https://eprints.soton.ac.uk/484728/

المؤلفون: Muqit, M M K, Larner, A J, Sweeney, M G, Sewry, C, Stinton, V J, Davis, M B, Healy, D G, Payne, S J, Chotai, K, Wood, N W, Lane, R J M

مصطلحات موضوعية: Papers

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/79/1/68; http://dx.doi.org/10.1136/jnnp.2006.112250

الاتاحة: http://jnnp.bmj.com/cgi/content/short/79/1/68
https://doi.org/10.1136/jnnp.2006.112250

المؤلفون: Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O'Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K

المصدر: Nature, 29 October 2020

Relation: https://eprints.ncl.ac.uk/271300

الاتاحة: https://eprints.ncl.ac.uk/271300

المؤلفون: Griffiths, M, Mason, J, Rindl, M, Akiki, S, McMullan, D, Stinton, V, Powell, H, Curtis, A, Bown, N, Craddock, C

المصدر: Leukemia ; volume 19, issue 12, page 2355-2358 ; ISSN 0887-6924 1476-5551

الاتاحة: http://dx.doi.org/10.1038/sj.leu.2403988
https://www.nature.com/articles/2403988.pdf
https://www.nature.com/articles/2403988

المؤلفون: Sinha, K K, Worth, P F, Jha, D K, Sinha, S, Stinton, V J, Davis, M B, Wood, N W, Sweeney, M G, Bhatia, K P

مصطلحات موضوعية: Papers

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/75/3/448; http://dx.doi.org/10.1136/jnnp.2002.004895

الاتاحة: http://jnnp.bmj.com/cgi/content/short/75/3/448
https://doi.org/10.1136/jnnp.2002.004895

المؤلفون: Garrard, P, Blake, J, Stinton, V, Hanna, MG, Reilly, MM, Holton, JL, Landon, DN, Honan, WP

المصدر: J NEUROL NEUROSUR PS , 73 (2) 207 - 208. (2002)

مصطلحات موضوعية: ENCEPHALOMYOPATHY, OPHTHALMOPLEGIA

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/3963/1/3963.pdf; https://discovery.ucl.ac.uk/id/eprint/3963/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/3963/1/3963.pdf
https://discovery.ucl.ac.uk/id/eprint/3963/

المؤلفون: Griffiths M, Mason J, Rindl M, Akiki S, McMullan D, Stinton V, Powell H, Curtis A, Bown N, Craddock C

المصدر: Leukemia, December 2005

Relation: https://eprints.ncl.ac.uk/70025

الاتاحة: https://eprints.ncl.ac.uk/70025

المؤلفون: Munchau A, Davis MB, Stinton V, Wood NW, Quinn NP, Bhatia KP, VALENTE, Enza Maria

المساهمون: Munchau, A, Valente, Enza Maria, Davis, Mb, Stinton, V, Wood, Nw, Quinn, Np, Bhatia, Kp

Relation: info:eu-repo/semantics/altIdentifier/pmid/11009204; info:eu-repo/semantics/altIdentifier/wos/000089324200027; volume:15; firstpage:954; lastpage:959; numberofpages:6; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11386/3949627

الاتاحة: http://hdl.handle.net/11386/3949627

المؤلفون: Munchau, A, Davis, Mb, Stinton, V, Wood, Nw, Quinn, Np, Bhatia, Kp, VALENTE, ENZA MARIA

المساهمون: Munchau, A, Valente, ENZA MARIA, Davis, Mb, Stinton, V, Wood, Nw, Quinn, Np, Bhatia, Kp

Relation: info:eu-repo/semantics/altIdentifier/pmid/11009204; info:eu-repo/semantics/altIdentifier/wos/WOS:000089324200027; volume:15; issue:5; firstpage:954; lastpage:959; numberofpages:6; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11571/1180782; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0033814985

الاتاحة: http://hdl.handle.net/11571/1180782

المؤلفون: M�nchau, A., Valente, E. M., Davis, M. B., Stinton, V., Wood, N. W., Quinn, N. P., Bhatia, Kailash P.

المصدر: Movement Disorders ; volume 15, issue 5, page 954-959 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/1531-8257(200009)15:5%3C954::aid-mds1028%3E3.0.co%3B2-i
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F1531-8257(200009)15:5%3C954::AID-MDS1028%3E3.0.CO%3B2-I
https://onlinelibrary.wiley.com/doi/full/10.1002/1531-8257(200009)15:5%3C954::AID-MDS1028%3E3.0.CO%3B2-I

المؤلفون: Sinha K K, Worth P F, Jha D K, Sinha S, Stinton V J, Davis M B, Wood N W, Sweeney M G, Bhatia K P, Sinha, K K, Worth, P F, Jha, D K, Sinha, S, Stinton, V J, Davis, M B, Wood, N W, Sweeney, M G, Bhatia, K P

المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Mar2004, Vol. 75 Issue 3, p448-452, 5p

مصطلحات موضوعية: FRIEDREICH'S ataxia, CEREBELLAR ataxia, GENETIC mutation

مصطلحات جغرافية: INDIA

المؤلفون: Muqit, M. M. K., Larner, A. J., Sweeney, M. G., Sewry, C., Stinton, V. J., Davis, M. B., Healy, D. G., Payne, S. J., Chotai, K., Wood, N. W., Lane, R. J. M.

المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Jan2008, Vol. 79 Issue 1, p68-71, 4p, 2 Diagrams, 1 Graph

مصطلحات موضوعية: NEUROMUSCULAR diseases, MUSCLE diseases, MITOCHONDRIA, GENETIC disorders, DNA, MOLECULAR genetics

المؤلفون: Griffiths, M., Mason, J., Rindl, M., Akiki, S., McMullan, D., Stinton, V., Powell, H., Curtis, A., Bown, N., Craddock, C.

المصدر: Leukemia (08876924); Dec2005, Vol. 19 Issue 12, p2355-2358, 4p, 3 Charts, 1 Graph

مصطلحات موضوعية: LETTERS to the editor, MYELOID leukemia

المؤلفون: Münchau, A., Valente, E. M., Davis, M. B., Stinton, V., Wood, N. W., Quinn, N. P., Bhatia, Kailash P., Münchau, A, Bhatia, K P

المصدر: Movement Disorders; Sep2000, Vol. 15 Issue 5, p954-959, 6p

المؤلفون: Garrard, P., Blake, J., Stinton, V., Hanna, M. G., Reilly, M. M., Holton, J. L., Landon, D. N., Honan, W. P.

المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Aug2002, p207-208, 2p, 1 Black and White Photograph

المؤلفون: McCann, Emma, Stinton, V., Harris, P., Mountford, R.

المصدر: Journal of Medical Genetics; Sep2005, Vol. 42, pS98-S98, 1/4p

مصطلحات موضوعية: MOSAICISM