المؤلفون: Nemec, S. F., Nemec, U., Weber, M., Kasprian, G., Brugger, P. C., Krestan, C. R., Rotmensch, S., Rimoin, D. L., Graham, J. M., Prayer, D.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 38, issue 6, page 688-694 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.8964Test

المؤلفون: Hoornaert, K P, Dewinter, C, Vereecke, I, Beemer, F A, Courtens, W, Fryer, A, Fryssira, H, Lees, M, Müllner-Eidenböck, A, Rimoin, D L, Siderius, L, Superti-Furga, A, Temple, K, Willems, P J, Zankl, A, Zweier, C, De Paepe, A, Coucke, P, Mortier, G R

مصطلحات موضوعية: Original articles

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/43/5/406Test; http://dx.doi.org/10.1136/jmg.2005.035717Test

الإتاحة: https://doi.org/10.1136/jmg.2005.035717Test
http://jmg.bmj.com/cgi/content/short/43/5/406Test

المؤلفون: Cormier-Daire, V, Delezoide, A L, Philip, N, Marcorelles, P, Casas, K, Hillion, Y, Faivre, L, Rimoin, D L, Munnich, A, Maroteaux, P, Le Merrer, M

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/40/3/195Test; http://dx.doi.org/10.1136/jmg.40.3.195Test

الإتاحة: https://doi.org/10.1136/jmg.40.3.195Test
http://jmg.bmj.com/cgi/content/short/40/3/195Test

المؤلفون: Castriota-Scanderbeg, A, Mingarelli, R, Caramia, G, Osimani, P, Lachman, R S, Rimoin, D L, Wilcox, W R, Dallapiccola, B

مصطلحات موضوعية: Research Article

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/34/10/854Test; http://dx.doi.org/10.1136/jmg.34.10.854Test

الإتاحة: https://doi.org/10.1136/jmg.34.10.854Test
http://jmg.bmj.com/cgi/content/short/34/10/854Test

المؤلفون: Nemec, S. F., Nemec, U., Weber, M., Brugger, P. C., Bettelheim, D., Rotmensch, S., Krestan, C. R., Rimoin, D. L., Graham, J. M., Prayer, D.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 39, issue 3, page 330-335 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.9022Test

المؤلفون: Le Goff, C, Mahaut, C, Wang, L W, Allali, S, Abhyankar, A, Jensen, S, Zylberberg, L, Collod-Beroud, G, Bonnet, D, Alanay, Y, Brady, A F, Cordier, M P, Devriendt, K, Genevieve, D, Kiper, P Ö S, Kitoh, H, Krakow, D, Lynch, S A, Le Merrer, M, Mégarbane, A, Mortier, G, Odent, S, Polak, M, Rohrbach, M, Sillence, D, Stolte-Dijkstra, I, Superti-Furga, A, Rimoin, D L, Topouchian, V, Unger, S, Zabel, B, Bole-Feysot, C, Nitschke, P, Handford, P, Casanova, J L, Boileau, C, Apte, S S, Munnich, A, Cormier-Daire, V

المصدر: Le Goff, C; Mahaut, C; Wang, L W; Allali, S; Abhyankar, A; Jensen, S; Zylberberg, L; Collod-Beroud, G; Bonnet, D; Alanay, Y; Brady, A F; Cordier, M P; Devriendt, K; Genevieve, D; Kiper, P Ö S; Kitoh, H; Krakow, D; Lynch, S A; Le Merrer, M; Mégarbane, A; Mortier, G; Odent, S; Polak, M; Rohrbach, M; Sillence, D; Stolte-Dijkstra, I; Superti-Furga, A; Rimoin, D L; Topouchian, V; Unger, S; Zabel, B; Bole-Feysot, C; Nitschke, P; Handford, P; Casanova, J L; Boileau, C; Apte, S S; Munnich, A; Cormier-Daire, V (2011). Mutations in the TGFβ binding-protein-like domain 5 of FBN1 ....

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/59002/1/Mutations_in_the_TGFb_Binding-Protein-Like_Domain.pdfTest; info:pmid/21683322; urn:issn:0002-9297

الإتاحة: https://doi.org/10.5167/uzh-5900210.1016/j.ajhg.2011.05.012Test
https://www.zora.uzh.ch/id/eprint/59002Test/
https://www.zora.uzh.ch/id/eprint/59002/1/Mutations_in_the_TGFb_Binding-Protein-Like_Domain.pdfTest

المؤلفون: Nemec, S. F., Nemec, U., Weber, M., Rotmensch, S., Brugger, P. C., Kasprian, G., Krestan, C. R., Rimoin, D. L., Graham, J. M., Prayer, D.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 38, issue 6, page 695-700 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.8973Test

المؤلفون: Nemec, S. F., Kasprian, G., Brugger, P. C., Bettelheim, D., Amann, G., Nemec, U., Rotmensch, S., Graham, J. M., Rimoin, D. L., Lachman, R. S., Prayer, D.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 38, issue 5, page 559-567 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.8949Test

المؤلفون: ROSSI, ANTONIO, KAITILA I., WILCOX W. R., RIMOIN D. L., STEINMANN B., CETTA, GIUSEPPE, SUPERTI FURGA A.

المساهمون: Rossi, Antonio, Kaitila, I., Wilcox, W. R., Rimoin, D. L., Steinmann, B., Cetta, Giuseppe, SUPERTI FURGA, A.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000076562700004; volume:17; firstpage:361; lastpage:369; numberofpages:9; journal:MATRIX BIOLOGY; http://hdl.handle.net/11571/131530Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0031790548

الإتاحة: http://hdl.handle.net/11571/131530Test

المؤلفون: Nishimura, G., Nakashima, E., Hirose, Y., Cole, T., Cox, P., Cohn, D. H, Rimoin, D. L, Lachman, R. S, Miyamoto, Y., Kerr, B., Unger, S., Ohashi, H., Superti-Furga, A., Ikegawa, S.

المصدر: Journal of Medical Genetics ; volume 44, issue 4, page e73-e73 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.2006.043869Test