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: Georgaki, Helen, Puschett, Jules B.

المصدر: Endocrine Research Communications; 1982, Vol. 9 Issue 2, p135-143, 9p

المؤلفون: Georgaki, Helen, Puschett, Jules B.

المصدر: Proceedings of the Society for Experimental Biology & Medicine; Oct1983, Vol. 174 Issue 1, p86-92, 7p

المؤلفون: Georgaki, Helen, Puschett, Jules B.

المصدر: Experimental Biology and Medicine; October 1983, Vol. 174 Issue: 1 p86-92, 7p

المؤلفون: Georgaki, Helen, Puschett, Jules B.

المصدر: Endocrine Research Communications ; volume 9, issue 2, page 135-143 ; ISSN 0093-6391

الإتاحة: https://doi.org/10.1080/07435808209045759Test

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