المؤلفون: Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z. N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

المساهمون: Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z. N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

مصطلحات موضوعية: distal arthrogryposis type 8, filamin B, MYH3, skeletal dysplasia, spondylocarpotarsal syndrome, Genetic, Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29805041; info:eu-repo/semantics/altIdentifier/wos/WOS:000434946200009; volume:102; issue:6; firstpage:1115; lastpage:1125; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3280016Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85047216579; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.008Test
http://hdl.handle.net/11577/3280016Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

المؤلفون: Kwan, Kin Ming, Zhou, Sheila, Cowan, Soot Keng, Pfordte, Tim, Olsen, Bjorn R., Sillence, David O.

المصدر: The Journal of Cell Biology, 1997 Jan . 136(2), 459-471.

الوصول الحر: https://www.jstor.org/stable/1617837Test

المؤلفون: Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

المصدر: The American Journal of Human Genetics ; volume 105, issue 3, page 669 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.08.007Test
https://api.elsevier.com/content/article/PII:S0002929719303118?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719303118?httpAccept=text/plainTest

المؤلفون: Cameron-Christie, Sophia R, Wells, Constance F, Simon, Marleen, Wessels, Marja, Tang, Candy Z N, Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O, Cordier, Marie-Pierre, Veenstra-Knol, Hermine E, Cassina, Matteo, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M, Jenkins, Zandra A, Robertson, Stephen P

المساهمون: Genetica Klinische Genetica

مصطلحات موضوعية: MYH3, distal arthrogryposis type 8, filamin B, pondylocarpotarsal syndrome, skeletal dysplasia

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/377027Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/377027Test

المؤلفون: van Dijk, Fleur S, Sillence, David O

المصدر: American Journal of Medical Genetics Part A ; volume 167, issue 5, page 1178-1178 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.36784Test

المؤلفون: Munns, Craig F., Fahiminiya, Somayyeh, Poudel, Nabin, Munteanu, Maria Cristina, Majewski, Jacek, Sillence, David O., Metcalf, Jordan P., Biggin, Andrew, Glorieux, Francis, Fassier, François, Rauch, Frank, Hinsdale, Myron E.

المصدر: The American Journal of Human Genetics ; volume 96, issue 6, page 971-978 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.04.017Test
https://api.elsevier.com/content/article/PII:S0002929715001548?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929715001548?httpAccept=text/plainTest

المؤلفون: Sigmundsdottir, Linda, Tchan, Michel C., Knopman, Alex A., Menzies, Graham C., Batchelor, Jennifer, Sillence, David O.

مصطلحات موضوعية: Original Empirical Reports

وصف الملف: text/html

العلاقة: http://acn.oxfordjournals.org/cgi/content/short/29/7/642Test; http://dx.doi.org/10.1093/arclin/acu047Test

الإتاحة: https://doi.org/10.1093/arclin/acu047Test
http://acn.oxfordjournals.org/cgi/content/short/29/7/642Test

المؤلفون: Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

المصدر: American Journal of Human Genetics, 105(3), 669. Cell Press

مصطلحات موضوعية: Published Erratum

وصف الملف: text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::4163a1d87cea2c290bad3211c7c30975Test
https://dspace.library.uu.nl/handle/1874/391388Test

المؤلفون: Elliott Elizabeth J, Tofts Louise J, Munns Craig, Pacey Verity, Sillence David O

المصدر: Pediatric Rheumatology Online Journal, Vol 7, Iss 1, p 1 (2009)

مصطلحات موضوعية: Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

العلاقة: http://www.ped-rheum.com/content/7/1/1Test; https://doaj.org/toc/1546-0096Test; https://doaj.org/article/238068dd2c8540b0b34953ed4fc77c89Test

الإتاحة: https://doi.org/10.1186/1546-0096-7-1Test
https://doaj.org/article/238068dd2c8540b0b34953ed4fc77c89Test

المؤلفون: Tofts, Louise J, Elliott, Elizabeth J, Munns, Craig, Pacey, Verity, Sillence, David O

المصدر: Pediatric Rheumatology ; volume 7, issue 1 ; ISSN 1546-0096

مصطلحات موضوعية: Immunology and Allergy, Rheumatology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1186/1546-0096-7-1Test