المؤلفون: Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, Geyter, Christian De, Paepe, Anne De, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück Pandey, Christa Emma, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Quinton, Richard, Szinnai, Gabor, l'Allemand, Dagmar, Konrad, Daniel, Sharif, Saba, Iyidir, Özlem Turhan, Stevenson, Brian J, Yang, Huanming, Dunkel, Leo, Pitteloud, Nelly

المصدر: Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; . (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/123702Test/

الإتاحة: https://doi.org/10.1530/EJE-17-0568Test
https://boris.unibe.ch/123702/1/%5B1479683X%20-%20European%20Journal%20of%20Endocrinology%5D%20Congenital%20hypogonadotropic%20hypogonadism%20and%20constitutional%20delay%20of%20growth%20and%20puberty%20have%20distinct%20genetic%20architectures.pdfTest
https://boris.unibe.ch/123702Test/

المؤلفون: Vanakker, Olivier M., Hosen, Mohammad J., Paepe, Anne De

المصدر: Frontiers in Genetics ; volume 4 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2013.00203Test

المؤلفون: Terryn, Wim, Poppe, Bruce, Wuyts, Birgitte, Claes, Kathleen, Maes, Bart, Verbeelen, Dierik, Vanholder, Raymond, Boeck, Koen De, Lameire, Norbert, Paepe, Anne De, Schoenmakere, Gert De

مصطلحات موضوعية: Original Article

وصف الملف: text/html

العلاقة: http://ndt.oxfordjournals.org/cgi/content/short/gfm532v1Test; http://dx.doi.org/10.1093/ndt/gfm532Test

الإتاحة: https://doi.org/10.1093/ndt/gfm532Test
http://ndt.oxfordjournals.org/cgi/content/short/gfm532v1Test

المؤلفون: Shahmoradian, Sarah H., Lewis, Amanda J., Genoud, Christel, Hench, J. rgen, Moors, Tim E., Navarro, Paula P., Castaño-Díez, Daniel, Schweighauser, Gabriel, Graff-Meyer, Alexandra, Goldie, Kenneth N., Sütterlin, Rosmarie, Huisman, Evelien, Ingrassia, Angela, Gier, Yvonne de, Rozemuller, Annemieke J. M., Wang, Jing, Paepe, Anne De, Erny, Johannes, Staempfli, Andreas, Hoernschemeyer, Joerg, Großerüschkamp, Frederik, Niedieker, Daniel, el-Mashtoly, Samir F., Quadri, Marialuisa, van IJcken, Wilfred F. J., Bonifati, Vincenzo, Gerwert, Klaus, Bohrmann, Bernd, Frank, Stephan, Britschgi, Markus, Stahlberg, Henning, van de Berg, Wilma D. J., Lauer, Matthias E.

المصدر: Shahmoradian , S H , Lewis , A J , Genoud , C , Hench , J R , Moors , T E , Navarro , P P , Castaño-Díez , D , Schweighauser , G , Graff-Meyer , A , Goldie , K N , Sütterlin , R , Huisman , E , Ingrassia , A , Gier , Y D , Rozemuller , A J M , Wang , J , Paepe , A D , Erny , J , Staempfli , A , Hoernschemeyer , J , Großerüschkamp , F , Niedieker , D , el-Mashtoly ....

العلاقة: https://research.vumc.nl/en/publications/06f8f039-13aa-44ee-a512-b049e4ba1194Test

الإتاحة: https://doi.org/10.1038/s41593-019-0423-2Test
https://research.vumc.nl/en/publications/06f8f039-13aa-44ee-a512-b049e4ba1194Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85067840164&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/31235907Test

المؤلفون: Colige, Alain, Nuytinck, Lieve, Hausser, Ingrid, van Essen, Anthonie J, Thiry, Marc, Herens, Christian, Ades, Lesley C, Malfait, Fransiska, Paepe, Anne De, Franck, Peter, Wolff, Gerhard, Oosterwijk, Jan C, Smitt, J H Sillevis, Lapiere, Charles M, Nusgens, Betty

المصدر: Journal of Investigative Dermatology, 123 (4), 656-63 (2004)

مصطلحات موضوعية: ADAM Proteins, Animals, Cells, Cultured, Child, Preschool, Codon, Nonsense, Dermis/cytology, Ehlers-Danlos Syndrome/classification/genetics/pathology, Fibroblasts/ultrastructure, Humans, Male, Mice, Microscopy, Electron, Polymorphism, Genetic, Procollagen N-Endopeptidase/chemistry/genetics, Protein Structure, Tertiary, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire

العلاقة: urn:issn:0022-202X; urn:issn:1523-1747; https://orbi.uliege.be/handle/2268/29551Test; info:hdl:2268/29551; https://orbi.uliege.be/bitstream/2268/29551/1/Colige-JID-2004postprintauteur.pdfTest; scopus-id:2-s2.0-4644297498; info:pmid:15373769

الإتاحة: https://doi.org/10.1111/j.0022-202X.2004.23406.xTest
https://orbi.uliege.be/handle/2268/29551Test
https://orbi.uliege.be/bitstream/2268/29551/1/Colige-JID-2004postprintauteur.pdfTest

المؤلفون: Paepe, Anne De, Malfait, Fransiska

المصدر: British Journal of Haematology ; volume 127, issue 5, page 491-500 ; ISSN 0007-1048 1365-2141

الإتاحة: https://doi.org/10.1111/j.1365-2141.2004.05220.xTest

المؤلفون: Hellemans, Jan, Preobrazhenska, Olena, Willaert, Andy, Debeer, Philippe, Verdonk, Peter C M, Costa, Teresa, Janssens, Katrien, Menten, Bjorn, Roy, Nadine Van, Vermeulen, Stefan J T, Savarirayan, Ravi, Hul, Wim Van, Vanhoenacker, Filip, Huylebroeck, Danny, Paepe, Anne De, Naeyaert, Jean-Marie, Vandesompele, Jo, Speleman, Frank, Verschueren, Kristin, Coucke, Paul J, Mortier, Geert R

المصدر: Nature Genetics ; volume 36, issue 11, page 1213-1218 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/ng1453Test
http://www.nature.com/articles/ng1453.pdfTest
http://www.nature.com/articles/ng1453Test

المؤلفون: Hellemans, Jan, Coucke, Paul J., Giedion, Andres, Paepe, Anne De, Kramer, Peter, Beemer, Frits, Mortier, Geert R.

المصدر: The American Journal of Human Genetics ; volume 72, issue 4, page 1040-1046 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/374318Test
https://api.elsevier.com/content/article/PII:S0002929707606272?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707606272?httpAccept=text/plainTest

المؤلفون: Vandenbroucke, Ina I., Vandesompele, Jo, Paepe, Anne De, Messiaen, Ludwine

مصطلحات موضوعية: NAR Methods Online

وصف الملف: text/html

العلاقة: http://nar.oxfordjournals.org/cgi/content/short/29/13/e68Test; http://dx.doi.org/10.1093/nar/29.13.e68Test

الإتاحة: https://doi.org/10.1093/nar/29.13.e68Test
http://nar.oxfordjournals.org/cgi/content/short/29/13/e68Test

المؤلفون: Marini, Joan C., Forlino, Antonella, Bächinger, Hans Peter, Bishop, Nick J., Byers, Peter H., Paepe, Anne De, Fassier, Francois, Fratzl-Zelman, Nadja, Kozloff, Kenneth M., Krakow, Deborah, Montpetit, Kathleen, Semler, Oliver

المصدر: Nature Reviews Disease Primers ; volume 3, issue 1 ; ISSN 2056-676X

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1038/nrdp.2017.52Test
https://www.nature.com/articles/nrdp201752.pdfTest
https://www.nature.com/articles/nrdp201752Test
http://www.nature.com/articles/nrdp201752Test