المؤلفون: Unger, S, Ferreira, CR, Mortier, GR, Ali, H, Bertola, DR, Calder, A, Cohn, DH, Cormier-Daire, V, Girisha, KM, Hall, C, Krakow, D, Makitie, O, Mundlos, S, Nishimura, G, Robertson, SP, Savarirayan, R, Sillence, D, Simon, M, Sutton, VR, Warman, ML, Superti-Furga, A

المصدر: American journal of medical genetics. Part A. 191(5):1164-1209

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151933337

المؤلفون: Unger, S., Ferreira, C.R., Mortier, G.R., Ali, H., Bertola, D.R., Calder, A., Cohn, D.H., Cormier-Daire, V., Girisha, K.M., Hall, C., Krakow, D., Makitie, O., Mundlos, S., Nishimura, G., Robertson, S.P., Savarirayan, R., Sillence, D., Simon, M., Sutton, V.R., Warman, M.L., Superti-Furga, A.

المصدر: American journal of medical genetics. Part A, vol. 191, no. 5, pp. 1164-1209

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1900::84a4ea32d072f51c13fb162fb5c60607
https://serval.unil.ch/notice/serval:BIB_A5308577ECD7

المؤلفون: Shi, H, Enriquez, A, Rapadas, M, Martin, E, Wang, R, Moreau, J, Lim, C, Szot, J, Ip, E, Hughes, J, Sugimoto, K, Humphreys, D, McInerney-Leo, A, Leo, P, Maghzal, G, Halliday, J, Smith, J, Colley, A, Mark, P, Collins, F, Sillence, D, Winlaw, D, Ho, J, Guillemin, G, Brown, M, Kikuchi, K, Thomas, P, Stocker, R, Giannoulatou, E, Chapman, G, Duncan, E, Sparrow, D, Dunwoodie, S

Relation: https://ora.ox.ac.uk/objects/uuid:ebf539ae-44df-4d43-ba5c-9c9f5098f519; https://doi.org/10.1056/NEJMoa1616361

الاتاحة: https://doi.org/10.1056/NEJMoa1616361
https://ora.ox.ac.uk/objects/uuid:ebf539ae-44df-4d43-ba5c-9c9f5098f519

المؤلفون: Ilkovski, B, Pagnamenta, A, O'Grady, G, Kinoshita, T, Howard, M, Lek, M, Thomas, B, Turner, A, Christodoulou, J, Sillence, D, Knight, S, Popitsch, N, Keays, D, Anzilotti, C, Goriely, A, Waddell, L, Brilot, F, North, K, Kanzawa, N, Macarthur, D, Taylor, J, Kini, U, Murakami, Y, Clarke, N

Relation: https://ora.ox.ac.uk/objects/uuid:e7dcfd84-15df-48db-99c9-e8db46d00c1f; https://doi.org/10.1093/hmg/ddv331

الاتاحة: https://doi.org/10.1093/hmg/ddv331
https://ora.ox.ac.uk/objects/uuid:e7dcfd84-15df-48db-99c9-e8db46d00c1f

المؤلفون: Chong, SS, Almqvist, E, Telenius, H, LaTray, L, Nichol, K, BourdelatParks, B, Goldberg, YP, Haddad, BR, Richards, F, Sillence, D, Greenberg, CR, Ives, E, VandenEngh, G, Hughes, MR, Hayden, MR

المصدر: Human molecular genetics. 6(2):301-309

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1954385

المؤلفون: Ilkovski, B, Pagnamenta, AT, O'Grady, GL, Kinoshita, T, Howard, MF, Lek, M, Thomas, B, Turner, A, Christodoulou, J, Sillence, D, Knight, SJL, Popitsch, N, Keays, DA, Anzilotti, C, Goriely, A, Waddell, LB, Brilot, F, North, KN, Kanzawa, N, Macarthur, DG, Taylor, JC, Kini, U, Murakami, Y, Clarke, NF

Relation: pii: ddv331; Ilkovski, B., Pagnamenta, A. T., O'Grady, G. L., Kinoshita, T., Howard, M. F., Lek, M., Thomas, B., Turner, A., Christodoulou, J., Sillence, D., Knight, S. J. L., Popitsch, N., Keays, D. A., Anzilotti, C., Goriely, A., Waddell, L. B., Brilot, F., North, K. N., Kanzawa, N. ,. Clarke, N. F. (2015). Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. HUMAN MOLECULAR GENETICS, 24 (21), pp.6146-6159. https://doi.org/10.1093/hmg/ddv331.; http://hdl.handle.net/11343/221872

الاتاحة: http://hdl.handle.net/11343/221872

المؤلفون: Lazarus, S., McInerney-Leo, A.M., McKenzie, F.A., Baynam, G., Broley, S., Cavan, B.V., Munns, C.F., Pruijs, J.E., Sillence, D., Terhal, P.A., Pryce, K., Brown, M.A., Zankl, A., Thomas, G., Duncan, E.L.

وصف الملف: pdf

Relation: ispartof: BMC Musculoskeletal Disorders issue 1 vol 15; WOS:000335183500003; http://dx.doi.org/10.1186/1471-2474-15-107; 991005544392707891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/The-IFITM5-mutation-c-14C--T/991005544392707891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12136406630007891/13136765680007891; alma:61MUN_INST/bibs/991005544392707891

الاتاحة: https://doi.org/10.1186/1471-2474-15-107
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/The-IFITM5-mutation-c-14C--T/991005544392707891
https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12136406630007891/13136765680007891

المؤلفون: Sigmundsdottir, L., Tchan, M. C., Knopman, A. A., Menzies, G. C., Batchelor, J., Sillence, D. O.

المصدر: Archives of Clinical Neuropsychology ; volume 29, issue 7, page 642-650 ; ISSN 0887-6177 1873-5843

الاتاحة: https://doi.org/10.1093/arclin/acu047
http://academic.oup.com/acn/article-pdf/29/7/642/15403/acu047.pdf

المؤلفون: Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamande, S., Savarirayan, R.

المصدر: http://dx.doi.org/10.1186/1750-1172-6-37.

مصطلحات موضوعية: TRPV4, Metatropic Dysplasia (MD), Autosomal Dominant Brachyolmia (ADBO), Spondilometaphyseal Dysplasia Kozlowski Type (SMDK)

وصف الملف: application/pdf

Relation: Orphanet Journal of Rare Diseases, 2011; 6(1):1-8; http://hdl.handle.net/2440/70079; Haan, E. [0000-0002-7310-5124]

الاتاحة: http://hdl.handle.net/2440/70079
https://doi.org/10.1186/1750-1172-6-37

المؤلفون: Warman, ML, Cormier-Daire, V, Hall, C, Krakow, D, Lachman, R, LeMerrer, M, Mortier, G, Mundlos, S, Nishimura, G, Rimoin, DL, Robertson, S, Savarirayan, R, Sillence, D, Spranger, J, Unger, S, Zabel, B, Superti-Furga, A

Relation: Warman, M. L., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., LeMerrer, M., Mortier, G., Mundlos, S., Nishimura, G., Rimoin, D. L., Robertson, S., Savarirayan, R., Sillence, D., Spranger, J., Unger, S., Zabel, B. & Superti-Furga, A. (2011). Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A (5), pp.943-968. https://doi.org/10.1002/ajmg.a.33909.; http://hdl.handle.net/11343/264780

الاتاحة: http://hdl.handle.net/11343/264780

المؤلفون: Ewans L. J., Colley A., Gaston-Massuet C., Gualtieri A., Cowley M. J., McCabe M. J., Anand D., Lachke S., Scietti L., Forneris F., Zhu Y., Ying K., Walsh C., Kirk E. P., Miller D., Giunta C., Sillence D., Dinger M., Buckley M., Roscioli T.

المساهمون: Ewans, L. J., Colley, A., Gaston-Massuet, C., Gualtieri, A., Cowley, M. J., Mccabe, M. J., Anand, D., Lachke, S., Scietti, L., Forneris, F., Zhu, Y., Ying, K., Walsh, C., Kirk, E. P., Miller, D., Giunta, C., Sillence, D., Dinger, M., Buckley, M., Roscioli, T.

مصطلحات موضوعية: connective tissue disorder, LH3, PLOD3, stickler syndrome, tissue expression

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31129566; info:eu-repo/semantics/altIdentifier/wos/WOS:000514844900009; volume:56; firstpage:629; lastpage:638; numberofpages:10; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11571/1275406; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066895550; http://jmg.bmj.com/content/by/year

الاتاحة: http://hdl.handle.net/11571/1275406
https://doi.org/10.1136/jmedgenet-2019-106019
http://jmg.bmj.com/content/by/year

المؤلفون: Sparrow, D.B., Chapman, G., Wouters, M.A., Whittock, N.V., Ellard, S., Fatkin, D., Turnpenny, P.D., Kusumi, K., Sillence, D., Dunwoodie, S.L.

المصدر: The American Journal of Human Genetics ; volume 78, issue 1, page 28-37 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/498879
https://api.elsevier.com/content/article/PII:S0002929707608039?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707608039?httpAccept=text/plain

المؤلفون: Stone, D L, Carey, W F, Christodoulou, J, Sillence, D, Nelson, P, Callahan, M, Tayebi, N, Sidransky, E

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://fn.bmj.com/cgi/content/short/82/2/F163; http://dx.doi.org/10.1136/fn.82.2.F163

الاتاحة: http://fn.bmj.com/cgi/content/short/82/2/F163
https://doi.org/10.1136/fn.82.2.F163

المؤلفون: Hayes, M, Parker, G, Ell, J, Sillence, D

مصطلحات موضوعية: Papers

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/66/3/357; http://dx.doi.org/10.1136/jnnp.66.3.357

الاتاحة: http://jnnp.bmj.com/cgi/content/short/66/3/357
https://doi.org/10.1136/jnnp.66.3.357

المؤلفون: Hunter, A G, Bankier, A, Rogers, J G, Sillence, D, Scott, C I

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/35/9/705; http://dx.doi.org/10.1136/jmg.35.9.705

الاتاحة: http://jmg.bmj.com/cgi/content/short/35/9/705
https://doi.org/10.1136/jmg.35.9.705

المؤلفون: Sheffield, L J, Osborn, A H, Hutchison, W M, Sillence, D O, Forrest, S M, White, S J, Dahl, H H

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/35/12/1004; http://dx.doi.org/10.1136/jmg.35.12.1004

الاتاحة: http://jmg.bmj.com/cgi/content/short/35/12/1004
https://doi.org/10.1136/jmg.35.12.1004

المؤلفون: Ewans, LJ, Colley, A, Gaston-Massuet, C, Gualtieri, A, Cowley, MJ, McCabe, MJ, Anand, D, Lachke, SA, Scietti, L, Forneris, F, Zhu, Y, Ying, K, Walsh, C, Kirk, EP, Miller, D, Giunta, C, Sillence, D, DInger, M, Buckley, M, Roscioli, T

مصطلحات موضوعية: Genetics & Heredity

وصف الملف: application/pdf

Relation: Journal of Medical Genetics; Journal of Medical Genetics, 2019, 56 (9), pp. 629 - 638; http://hdl.handle.net/10453/136203

الاتاحة: http://hdl.handle.net/10453/136203

المؤلفون: Mortier, G.R., Cohn, D.H., Cormier-Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., Sillence, D., Superti-Furga, A., Unger, S., Warman, M.L.

المصدر: American journal of medical genetics. Part A, vol. 179, no. 12, pp. 2393-2419

مصطلحات موضوعية: Alleles, Genetic Association Studies/methods, Genetic Predisposition to Disease, Humans, Inheritance Patterns, Musculoskeletal Diseases/diagnosis, Musculoskeletal Diseases/genetics, Phenotype, Practice Guidelines as Topic, Nosology, dysostoses, skeletal dysplasias, skeletal genetics, skeletal malformation syndromes

Relation: info:eu-repo/semantics/altIdentifier/pmid/31633310; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_3FCA33964CB5

الاتاحة: https://serval.unil.ch/notice/serval:BIB_3FCA33964CB5
https://doi.org/10.1002/ajmg.a.61366

المؤلفون: Mortier, GR, Cohn, DH, Cormier-Daire, V, Hall, C, Krakow, D, Mundlos, S, Nishimura, G, Robertson, S, Sangiorgi, L, Savarirayan, R, Sillence, D, Superti-Furga, A, Unger, S, Warman, ML

Relation: Mortier, G. R., Cohn, D. H., Cormier-Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., Sillence, D., Superti-Furga, A., Unger, S. & Warman, M. L. (2019). Nosology and classification of genetic skeletal disorders: 2019 revision. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179 (12), pp.2393-2419. https://doi.org/10.1002/ajmg.a.61366.; http://hdl.handle.net/11343/286524

الاتاحة: http://hdl.handle.net/11343/286524

المؤلفون: Cole, W G, Chow, C W, Bateman, J F, Sillence, D O

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/11/965; http://dx.doi.org/10.1136/jmg.33.11.965

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/11/965
https://doi.org/10.1136/jmg.33.11.965