المؤلفون: Unger, S, Gorna, MW, Le Bechec, A, Do Vale-Pereira, S, Bedeschi, MF, Geiberger, S, Grigelioniene, G, Horemuzova, E, Lalatta, F, Lausch, E, Magnan, C, Nampoothiri, S, Nishimura, G, Petrella, D, Rojas-Ringeling, F, Utsunomiya, A, Zabel, B, Pradervand, S, Harshman, K, Campos-Xavier, B, Bonafe, L, Superti-Furga, G, Stevenson, B, Superti-Furga, A

المصدر: American journal of human genetics. 92(6):990-995

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:126853150Test

المؤلفون: Dai, J, Kim, OH, Cho, TJ, Schmidt-Rimpler, M, Tonoki, H, Takikawa, K, Haga, N, Miyoshi, K, Kitoh, H, Yoo, WJ, Choi, IH, Song, HR, Jin, DK, Kim, HT, Kamasaki, H, Bianchi, P, Grigelioniene, G, Nampoothiri, S, Minagawa, M, Miyagawa, S, Fukao, T, Marcelis, C, Jansweijer, MCE, Hennekam, RCM, Bedeschi, F, Mustonen, A, Jiang, Q, Ohashi, H, Furuichi, T, Unger, S, Zabel, B, Lausch, E, Superti-Furga, A, Nishimura, G, Ikegawa, S

المصدر: Journal of medical genetics. 47(10):704-709

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121506674Test

المؤلفون: Chabronova, A., van den Akker, G.G.H., Meekels-Steinbusch, M.M.F., Friedrich, F., Cremers, A., Surtel, D.A.M., Peffers, M.J., van Rhijn, L.W., Lausch, E., Zabel, B., Caron, M.M.J., Welting, T.J.M.

المصدر: Chabronova , A , van den Akker , G G H , Meekels-Steinbusch , M M F , Friedrich , F , Cremers , A , Surtel , D A M , Peffers , M J , van Rhijn , L W , Lausch , E , Zabel , B , Caron , M M J & Welting , T J M 2021 , ' Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts ' , Non-coding RNA research , vol. 6 , no. 4 , pp. 211-224 . https://doi.org/10.1016/j.ncrna.2021.12.003Test

مصطلحات موضوعية: RMRP, snoRNA, Cartilage-hair hypoplasia, Transcriptome, Transdifferentiation, Chondrocyte, GROWTH-FACTOR-I, RNASE-MRP, TRANSCRIPTIONAL CONTROL, PLATE CHONDROCYTES, FACTOR RECEPTOR-3, STEM-CELLS, X COLLAGEN, CROSS-TALK, CARTILAGE, BONE

الإتاحة: https://doi.org/10.1016/j.ncrna.2021.12.003Test
https://cris.maastrichtuniversity.nl/en/publications/2342ba68-4d00-4f61-9417-9d1c61dd09c1Test

المؤلفون: Härter, B., Benedicenti, F., Karall, D., Lausch, E., Schweigmann, G., Stanzial, F., Superti-Furga, A., Scholl-Bürgi, S.

المصدر: Molecular genetics & genomic medicine, vol. 8, no. 6, pp. e1203

مصطلحات موضوعية: ANTXR2, CMG2, Hyaline Fibromatosis Syndrome, infantile systemic hyalinosis, juvenile hyaline fibromatosis

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32196989; info:eu-repo/semantics/altIdentifier/eissn/2324-9269; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_408DF9868F376; https://serval.unil.ch/notice/serval:BIB_408DF9868F37Test; urn:issn:2324-9269; https://serval.unil.ch/resource/serval:BIB_408DF9868F37.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_408DF9868F376Test

الإتاحة: https://doi.org/10.1002/mgg3.1203Test
https://serval.unil.ch/notice/serval:BIB_408DF9868F37Test
https://serval.unil.ch/resource/serval:BIB_408DF9868F37.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_408DF9868F376Test

المؤلفون: Wehrle, A., Witkos, T.M., Unger, S., Schneider, J., Follit, J.A., Hermann, J., Welting, T., Fano, V., Hietala, M., Vatanavicharn, N., Schoner, K., Spranger, J., Schmidts, M., Zabel, B., Pazour, G.J., Bloch-Zupan, A., Nishimura, G., Superti-Furga, A., Lowe, M., Lausch, E.

المصدر: JCI insight, vol. 4, no. 3, pp. e124701

مصطلحات موضوعية: Bone Biology, Bone development, Genetics, Molecular pathology, Protein traffic

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30728324; info:eu-repo/semantics/altIdentifier/eissn/2379-3708; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_FFBC7D52BB3D6; https://serval.unil.ch/notice/serval:BIB_FFBC7D52BB3DTest; urn:issn:2379-3708; https://serval.unil.ch/resource/serval:BIB_FFBC7D52BB3D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_FFBC7D52BB3D6Test

الإتاحة: https://doi.org/10.1172/jci.insight.124701Test
https://serval.unil.ch/notice/serval:BIB_FFBC7D52BB3DTest
https://serval.unil.ch/resource/serval:BIB_FFBC7D52BB3D.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_FFBC7D52BB3D6Test

المؤلفون: Bürgi, J., Kunz, B., Abrami, L., Deuquet, J., Piersigilli, A., Scholl-Bürgi, S., Lausch, E., Unger, S., Superti-Furga, A., Bonaldo, P., van der Goot, F.G.

المصدر: Nature communications, vol. 8, pp. 15861

مصطلحات موضوعية: Animals, Collagen Type VI/metabolism, Female, Fibrosis/metabolism, Fibrosis/pathology, Humans, Hyalinosis, Systemic/metabolism, Matrix Metalloproteinases/metabolism, Mice, Knockout, Receptors, Peptide/genetics, Peptide/metabolism, Peptide/physiology, Uterus/metabolism, Uterus/pathology

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28604699; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D06F5FC5430F7; https://serval.unil.ch/notice/serval:BIB_D06F5FC5430FTest; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_D06F5FC5430F.P002/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D06F5FC5430F7Test

الإتاحة: https://doi.org/10.1038/ncomms15861Test
https://serval.unil.ch/notice/serval:BIB_D06F5FC5430FTest
https://serval.unil.ch/resource/serval:BIB_D06F5FC5430F.P002/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D06F5FC5430F7Test

المؤلفون: Spranger, J W, Lausch, E

المصدر: South African Medical Journal; Vol 106, No 6 (2016): Supplement: Peter Beighton Festschrift; S98 ; 2078-5135 ; 0256-9574

وصف الملف: application/pdf

العلاقة: http://samj.org.za/index.php/samj/article/view/11007/7442Test; http://samj.org.za/index.php/samj/article/view/11007Test

الإتاحة: https://doi.org/10.7196/SAMJ.2016.v106i6.11007Test
http://samj.org.za/index.php/samj/article/view/11007Test

المؤلفون: Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti Furga A, Bozzola M., CIRILLO, Margherita

المساهمون: Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M.

مصطلحات موضوعية: 3-M syndrome, CUL-7 gene mutation, Growth hormone deficiency

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23517720; info:eu-repo/semantics/altIdentifier/wos/WOS:000317018500001; volume:39; issue:-; firstpage:-; lastpage:-; numberofpages:5; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2318/132657Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84875152854

الإتاحة: http://hdl.handle.net/2318/132657Test

المؤلفون: Grünert, Sarah C., Wehrle, A., Villavicencio-Lorini, P., Lausch, E., Schwab, K. O., Tucci, S., Spiekerkoetter, U.

المصدر: BMC medical genetics. 16 (2015), 56, DOI 10.1186/s12881-015-0199-5, ISSN: 1471-2350

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/12528Test

الإتاحة: https://doi.org/10.1186/s12881-015-0199-5Test
https://freidok.uni-freiburg.de/data/12528Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-125281Test
https://freidok.uni-freiburg.de/dnb/download/12528Test

المؤلفون: Shaheen, R, Schmidts, M, Faqeih, E, Hashem, A, Lausch, E, Holder, I, Superti-Furga, A, UK10K Consortium, ., Mitchison, HM, Almoisheer, A, Alamro, R, Alshiddi, T, Alzahrani, F, Beales, PL, Alkuraya, FS

المصدر: Hum Mol Genet , 24 (5) 1410 - 1419. (2015)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1455890/1/Hum._Mol._Genet.-2015-Shaheen-1410-9.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1455890Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1455890/1/Hum._Mol._Genet.-2015-Shaheen-1410-9.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1455890Test/