المؤلفون: Laske, Jörg, Meinhardt, Matthias, Reif, Silke, Grossmann, Maria, Peitzsch, Mirko, Daubner, Dirk, Schackert, Gabriele, Pietsch, Torsten, Meier, Friedegund, Juratli, Tareq A., Richter, Susan

المصدر: Journal of the European Academy of Dermatology and Venereology ; ISSN 0926-9959 1468-3083

الإتاحة: https://doi.org/10.1111/jdv.20139Test

المؤلفون: Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter

المصدر: European Journal of Human Genetics ; volume 23, issue 11, page 1513-1518 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2015.5Test
http://www.nature.com/articles/ejhg20155.pdfTest
http://www.nature.com/articles/ejhg20155Test

المؤلفون: Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth-Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen-Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars-Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/44/10/651Test; http://dx.doi.org/10.1136/jmg.2007.051276Test

الإتاحة: https://doi.org/10.1136/jmg.2007.051276Test
http://jmg.bmj.com/cgi/content/short/44/10/651Test

المؤلفون: Lehmann, Katarina, Seemann, Petra, Boergermann, Jan, Morin, Gilles, Reif, Silke, Knaus, Petra, Mundlos, Stefan

المصدر: European Journal of Human Genetics ; volume 14, issue 12, page 1248-1254 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201708Test
http://www.nature.com/articles/5201708.pdfTest
http://www.nature.com/articles/5201708Test

المؤلفون: Jahic, Amir, Kreuz, Friedmar, Zacher, Pia, Fiedler, Jana, Bier, Andrea, Reif, Silke, Rieger, Manuela, Krüger, Stefan, Beetz, Christian, Plaschke, Jens

المساهمون: Deutsche Gesellschaft für Klinische Chemie und Laboratoriumsmedizin

المصدر: Journal of the Neurological Sciences ; volume 347, issue 1-2, page 372-374 ; ISSN 0022-510X

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1016/j.jns.2014.10.018Test
https://api.elsevier.com/content/article/PII:S0022510X14006716?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022510X14006716?httpAccept=text/plainTest

المؤلفون: Clewing, J Marietta, Fryssira, Helen, Goodman, David, Smithson, Sarah F, Sloan, Emily A, Lou, Shu, Huang, Yan, Choi, Kunho, Lücke, Thomas, Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Biebuyck-Gouge, Nathalie, Bogdanovic, Radovan, Bonneau, Dominique, Cancrini, Caterina, Cochat, Pierre, Cockfield, Sandra, Collard, Laure, Cordeiro, Isabel, Cormier-Daire, Valerie, Cransberg, Karlien, Cutka, Karel, Deschenes, Georges, Ehrich, Jochen H H, Fründ, Stefan, Georgaki, Helen, Guillen-Navarro, Encarna, Hinkelmann, Barbara, Kanariou, Maria, Kasap, Belde, Kilic, Sara Sebnem, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Milford, David, Morin, Denis, Ozdemir, Nihal, Pontz, Bertram F, Proesmans, Willem, Psoni, Stavroula, Reichenbach, Herbert, Reif, Silke, Rusu, Cristina, Saraiva, Jorge M, Sakallioglu, Onur, Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Smith, Graham, Sotsiou, Flora, Stajic, Natasa, Stein, Anja, Stray-Pedersen, Asbjørg, Taha, Doris, Taque, Sophie, Tizard, Jane, Tsimaratos, Michel, Wong, Newton A C S, Boerkoel, Cornelius F

العلاقة: Human Mutation; https://lirias.kuleuven.be/handle/123456789/21045Test; http://dx.doi.org/10.1002/humu.20432Test

الإتاحة: https://doi.org/10.1002/humu.20432Test
https://lirias.kuleuven.be/handle/123456789/21045Test

المؤلفون: Clewing, J. Marietta Fryssira, Helen Goodman, David and Smithson, Sarah F. Sloan, Emily A. Lou, Shu Huang, Yan and Chow, Kunho Luecke, Thomas Alpay, Harika Andre, Jean-Luc and Asakura, Yumi Biebuyck-Gouge, Nathalie Bogdanovic, Radovan and Bonneau, Dominique Cancrini, Caterina Cochat, Pierre and Cockfield, Sandra Collard, Laure Cordeiro, Isabel and Cormier-Daire, Valerie Cransberg, Karlien Cutka, Karel and Deschenes, Georges Ehrich, Jochen H. H. Frund, Stefan and Georgaki, Helen Guillen-Navarro, Encarna Hinkelmann, Barbara and Kanariou, Maria Kasap, Belde Kilic, Sara Sebnem Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia and Milford, David Morin, Denis Ozdemir, Nihal Pontz, Bertram F. and Proesmans, Willem Psoni, Stavroula Reichenbach, Herbert and Reif, Silke Rusu, Cristina Saraiva, Jorge M. Sakallioglu, Onur Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine and Smith, Graham Sotsiou, Flora Stajic, Natasa Stein, Anja and Stray-Pedersen, Asbjorg Taha, Doris Taque, Sophie Tizard, Jane Tsimaratos, Michel Wong, Newton A. C. S. Boerkoel, Cornelius F.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::3c78f23575b16c29f3bdf0af59eebbfcTest
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3116329Test

المؤلفون: Wüst, Melinda, Averbeck, Beate, Reif, Silke, Bräter, Manfred, Ravens, Ursula

المصدر: European Journal of Pharmacology ; volume 454, issue 1, page 59-69 ; ISSN 0014-2999

مصطلحات موضوعية: Pharmacology

الإتاحة: https://doi.org/10.1016/s0014-2999Test(02)02478-0
https://api.elsevier.com/content/article/PII:S0014299902024780?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0014299902024780?httpAccept=text/plainTest

المؤلفون: ALPAY, HARİKA

المساهمون: Clewing, J. Marietta, Fryssira, Helen, Goodman, David, Smithson, Sarah F., Sloan, Emily A., Lou, Shu, Huang, Yan, Chow, Kunho, Luecke, Thomas, Alpay, Harika, Andre, Jean-Luc, Asakura, Yumi, Biebuyck-Gouge, Nathalie, Bogdanovic, Radovan, Bonneau, Dominique, Cancrini, Caterina, Cochat, Pierre, Cockfield, Sandra, Collard, Laure, Cordeiro, Isabel, Cormier-Daire, Valerie, Cransberg, Karlien, Cutka, Karel, Deschenes, Georges, Ehrich, Jochen H. H., Frund, Stefan, Georgaki, Helen, Guillen-Navarro, Encarna, Hinkelmann, Barbara, Kanariou, Maria, Kasap, Belde, Kilic, Sara Sebnem, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Milford, David, Morin, Denis, Ozdemir, Nihal, Pontz, Bertram F., Proesmans, Willem, Psoni, Stavroula, Reichenbach, Herbert, Reif, Silke, Rusu, Cristina, Saraiva, Jorge M., Sakallioglu, Onur, Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Smith, Graham, Sotsiou, Flora, Stajic, Natasa, Stein, Anja, Stray-Pedersen, Asbjorg, Taha, Doris, Taque, Sophie, Tizard, Jane, Tsimaratos, Michel, Wong, Newton A. C. S., Boerkoel, Cornelius F.

مصطلحات موضوعية: genocopy, immunodeficiency, proteinuria, skeletal dysplasia, locus heterogeneity, SMARCAL1, IMMUNO-OSSEOUS DYSPLASIA, MUTATIONS, DISEASE, INHERITANCE, PROTEIN, TRAITS, KIDNEY

العلاقة: HUMAN MUTATION; https://hdl.handle.net/11424/228830Test; WOS:000244099500007

الإتاحة: https://doi.org/10.1002/humu.20432Test
https://hdl.handle.net/11424/228830Test