المؤلفون: Tümmler, B., Storrs, T., Dziadek, V., Dörk, T., Meitinger, T., Golla, A., Bertele-Harms, R. M., Harms, H. K., Schröder, E., Claaß, A., Rutjes, J., Schneppenheim, R., Bauer, I., Breuel, K., Stuhrmann, M., Schmidtke, J., Lindner, M., Eigel, A., Horst, J., Kaiser, R., Lentze, M. J., Schmidt, K., von der Hardt, H., Estivill, X.

المصدر: Human Genetics ; volume 97, issue 6, page 727-731 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s004390050128Test

المؤلفون: Bohnhorst, B., Stuhrmann, M., Nogee, L. M., Brasch, F., Müller, K. M., Poets, C. F.

المصدر: Monatsschrift Kinderheilkunde ; volume 144, issue 11, page 1214-1217 ; ISSN 0026-9298 1433-0474

مصطلحات موضوعية: Surgery, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s001120050077Test

المؤلفون: Dork, T El-Harith, EHA Stuhrmann, M Macek, M Egan, M and Cutting, GR Tzetis, M Kanavakis, E Carles, S Claustres, M Padoa, C Ramsay, M Schmidtke, J

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::349a6087ac10e536f43672bc3043bb95Test
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3050670Test

المؤلفون: Devoto, M, Romeo, G, Tenkate, Lp, Chevalier, F, Bozon, D, Estivill, X, Casals, T, Abeliovich, D, Lerer, I, Padoan, R, Seia, M, Hill, A, Liechtigallati, S, Kramer, R, Beards, F, Dear, S, Dallapiccola, B, Sangiuolo, F, Macek, M, Mcmahon, R, Connarty, M, Harvey, Jf, Claustres, M, Desgeorges, M, Devries, R, Scheffer, H, Cankiklain, N, Audrezet, Mp, Bienvenu, T, Chomel, Jc, Dziadek, V, Tummler, B, Schwarz, M, Haworth, A, Benitez, J, Fernandez, E, Mazurczak, T, Bal, J, Cremonesi, L, Ronchetto, P, Cashman, Sm, Ferec, C, Cuppens, Harry, Bauer, I, Angelicheva, D, Wagner, K, Pacheco, P, Bonizzato, A, Witt, M, Mcmahon, Cj, Ravnikglavac, M, Reis, A, Stuhrmann, M, Garnerone, S, Curtis, A, Gruning, G, Kanavakis, E, Klaassen, T, Grade, T

العلاقة: European journal of human genetics vol:3 issue:5 pages:324-325; https://lirias.kuleuven.be/handle/123456789/159665Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/159665Test

المؤلفون: Varon, R., Stuhrmann, M., Macek, M., Kufardjieva, A., Angelicheva, D., Magdorf, K., Jordanova, A., Savov, A., Wahn, U., Lalov, V., Ivanova, T., Ellemunter, H., Vavrova, V., Ferak, V., Kayserova, H., Reis, A., Kalaydjieva, L.

العلاقة: Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. Varon, R. and Stuhrmann, M. and Macek, M. and Kufardjieva, A. and Angelicheva, D. and Magdorf, K. and Jordanova, A. and Savov, A. and Wahn, U. and Lalov, V. and Ivanova, T. and Ellemunter, H. and Vavrova, V. and Ferak, V. and Kayserova, H. and Reis, A. and Kalaydjieva, L. Human Mutation 6 : 219-225. 1 January 1995

الإتاحة: http://edoc.mdc-berlin.de/3472Test/
https://edoc.mdc-berlin.de/3472Test/

المؤلفون: Heyer, B., Schmidtke, J., Stuhrmann, M.

المصدر: Molecular and Cellular Probes ; volume 8, issue 2, page 181-183 ; ISSN 0890-8508

مصطلحات موضوعية: Cell Biology, Molecular Biology

الإتاحة: https://doi.org/10.1006/mcpr.1994.1024Test
https://api.elsevier.com/content/article/PII:S0890850884710243?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0890850884710243?httpAccept=text/plainTest

المؤلفون: Stuhrmann, M., Bergmann, C., Zech, W.

المصدر: Forest Ecology and Management ; volume 70, issue 1-3, page 135-145 ; ISSN 0378-1127

مصطلحات موضوعية: Management, Monitoring, Policy and Law, Nature and Landscape Conservation, Forestry

الإتاحة: https://doi.org/10.1016/0378-1127Test(94)90081-7
https://api.elsevier.com/content/article/PII:0378112794900817?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:0378112794900817?httpAccept=text/plainTest

المؤلفون: Osborne, L, Santis, G, Schwarz, M, Klinger, K, Dork, T, Mcintosh, I, Schwartz, M, Nunes, V, Macek, M, Reiss, J, Highsmith, We, Mcmahon, R, Novelli, G, Malik, N, Burger, J, Anvret, M, Wallace, A, Williams, C, Mathew, C, Quarck, R, Graham, C, Gasparini, P, Balzarini, Jan, Cassiman, Jj, Balassopoulou, A, Davidow, L, Raskin, S, Kalaydjieva, L, Kerem, B, Richards, S, Simonbouy, B, Super, M, Wulbrand, U, Keston, M, Estivill, X, Vavrova, V, Friedman, Kj, Barton, D, Dallapiccola, B, Stuhrmann, M, Beards, F, Hill, Ajm, Pignatti, Pf, Cuppens, Harry, Angelicheva, D, Tummler, B, Brock, Djh, Casals, T, Schmidtke, J, Magee, Ac, Bonizzato, A, De Boeck, C, Kuffardjieva, A, Hodson, M, Knight, Ra

مصطلحات موضوعية: nucleotide-binding fold, frameshift mutations, identification, delta-f508, variants

العلاقة: Human Genetics vol:89 issue:6 pages:653-658; https://lirias.kuleuven.be/handle/123456789/159645Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/159645Test

المؤلفون: van Essen, A.J., ABBS, S, BAIGET, M, BAKKER, E, BOILEAU, C, VANBROECKHOVEN, C, BUSHBY, K, CLARKE, A, CLAUSTRES, M, COVONE, AE, FERRARI, M, FERLINI, A, GALLUZZI, G, GRIMM, T, GRUBBEN, C, JEANPIERRE, M, KAARIAINEN, H, LIECHTIGALLATI, S, MELIS, MA, VANOMMEN, GJB, PONCIN, JE, SCHEFFER, H, SCHWARTZ, M, SPEER, A, STUHRMANN, M, VERELLENDUMOULIN, C, WILCOX, DE, ten Kate, L.P.

المصدر: van Essen , A J , ABBS , S , BAIGET , M , BAKKER , E , BOILEAU , C , VANBROECKHOVEN , C , BUSHBY , K , CLARKE , A , CLAUSTRES , M , COVONE , AE , FERRARI , M , FERLINI , A , GALLUZZI , G , GRIMM , T , GRUBBEN , C , JEANPIERRE , M , KAARIAINEN , H , LIECHTIGALLATI , S , MELIS , MA , VANOMMEN , GJB , PONCIN , JE , SCHEFFER , H , SCHWARTZ , M , SPEER , A , STUHRMANN ....

مصطلحات موضوعية: DUCHENNE MUSCULAR-DYSTROPHY, GERMINAL MOSAICISM, PRENATAL-DIAGNOSIS, SOMATIC MOSAICISM, CARRIER DETECTION, MUTATIONS, FAMILIES, MUTANTS, CDNA, SEGREGATION

العلاقة: https://research.rug.nl/en/publications/4b64e391-578c-469c-8752-6f10aa4d5280Test

الإتاحة: https://hdl.handle.net/11370/4b64e391-578c-469c-8752-6f10aa4d5280Test
https://research.rug.nl/en/publications/4b64e391-578c-469c-8752-6f10aa4d5280Test

المؤلفون: van Essen, A.J., Abbs, S., Baiget, M., Bakker, E., Boileau, C., van Broeckhoven, C., Bushby, K., Clarke, A., Claustres, M., Covone, A.E., Ferrari, M., Ferlini, A., Galluzzi, G., Grimm, T., Grubben, C., Jeanpierre, M., Kaariainen, H., Liechtigallati, S., Melis, M.A., van Ommen, G.J.B., Poncin, J.E., Scheffer, H., Schwartz, M., Speer, A., Stuhrmann, M., Verellen-Dumoulin, C., Wilcox, D.E., Tenkate, L.P.

العلاقة: Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene - a european study. van Essen, A.J. and Abbs, S. and Baiget, M. and Bakker, E. and Boileau, C. and van Broeckhoven, C. and Bushby, K. and Clarke, A. and Claustres, M. and Covone, A.E. and Ferrari, M. and Ferlini, A. and Galluzzi, G. and Grimm, T. and Grubben, C. and Jeanpierre, M. and Kaariainen, H. and Liechtigallati, S. and Melis, M.A. and van Ommen, G.J.B. and Poncin, J.E. and Scheffer, H. and Schwartz, M. and Speer, A. and Stuhrmann, M. and Verellen-Dumoulin, C. and Wilcox, D.E. and Tenkate, L.P. Human Genetics 88 (3): 249-257. 1 January 1992

الإتاحة: https://doi.org/10.1007/BF00197255Test
http://edoc.mdc-berlin.de/45Test/
https://edoc.mdc-berlin.de/45Test/