المؤلفون: Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J M, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M S, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D R, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C N, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F

مصطلحات موضوعية: Schimke immuno-osseous dysplasia, SMARCAL1, Elastin, Vascular disease, Pulmonary emphysema

العلاقة: Orphanet Journal of Rare Diseases. 2012 Sep 22;7(1):70; http://hdl.handle.net/2429/56874Test

الإتاحة: https://doi.org/10.1186/1750-1172-7-70Test
http://hdl.handle.net/2429/56874Test

المؤلفون: Höcker, Britta, Weber, Lutz T., Feneberg, Reinhard, Drube, Jens, John, Ulrike, Fehrenbach, Henry, Pohl, Martin, Zimmering, Miriam, Fründ, Stefan, Klaus, Günter, Wühl, Elke, Tönshoff, Burkhard

مصطلحات موضوعية: Transplantation

وصف الملف: text/html

العلاقة: http://ndt.oxfordjournals.org/cgi/content/short/25/2/617Test; http://dx.doi.org/10.1093/ndt/gfp506Test

الإتاحة: https://doi.org/10.1093/ndt/gfp506Test
http://ndt.oxfordjournals.org/cgi/content/short/25/2/617Test

المؤلفون: Höcker, Britta, Weber, Lutz T., Feneberg, Reinhard, Drube, Jens, John, Ulrike, Fehrenbach, Henry, Pohl, Martin, Zimmering, Miriam, Fründ, Stefan, Klaus, Günter, Wühl, Elke, Tönshoff, Burkhard

مصطلحات موضوعية: Original Article

وصف الملف: text/html

العلاقة: http://ndt.oxfordjournals.org/cgi/content/short/gfp506v1Test; http://dx.doi.org/10.1093/ndt/gfp506Test

الإتاحة: https://doi.org/10.1093/ndt/gfp506Test
http://ndt.oxfordjournals.org/cgi/content/short/gfp506v1Test

المؤلفون: Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, Boerkoel, Cornelius F.

المصدر: European Journal of Pediatrics ; volume 169, issue 7, page 801-811 ; ISSN 0340-6199 1432-1076

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00431-009-1115-9Test

المؤلفون: Morimoto, Marie, Kérourédan, Olivia, Gendronneau, Marion, Shuen, Collin, Baradaran-Heravi, Alireza, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Dehaai, Kristi A., Fenkçi, M. Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Kohler, Karen, Lewis, David B., Massella, Laura, McLeod, D. Ross, Milford, David V., Nobili, François, Olney, Ann Haskins, Semerci, C. Nur, Stajić, Nataša, Stein, Anja, Taque, Sophie, Zonana, Jonathan, Lücke, Thomas, Hendson, Glenda, Bonnaure-Mallet, Martine, Boerkoel, Cornelius F.

المصدر: Journal of dental research

مصطلحات موضوعية: ddc:610, ALLELES, Anodontia, Arteriosclerosis, Bicuspid, Bone Morphogenetic Protein 4, Cell Culture Techniques, Cell Proliferation, cell signaling, Cell Survival, Cells, Cultured, Deciduous, DISEASE, DNA Helicases, EPITHELIAL ROOT SHEATH, FIBROBLASTS, GENE-EXPRESSION, Genetic, Humans, hypodontia, IDENTIFICATION, Immunologic Deficiency Syndromes, microdontia, Molar, molar root hypoplasia, Mutation, Nephrotic Syndrome, NUMBER, Odontogenesis

وصف الملف: S29-S37

العلاقة: urn:issn:0022-0345; urn:issn:1544-0591

الإتاحة: https://bibliographie.ub.rub.de/entry/29a1b996-c77e-4833-b001-f9b99e6bd2ebTest

المؤلفون: Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanović, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajić, Nataša, Taha, Doris, Boerkoel, Cornelius F.

المصدر: European journal of pediatrics

مصطلحات موضوعية: ddc:610, Adolescent, Adult, ASSOCIATION, Bone and Bones, Child, Diagnosis, Differential, DNA Helicases, DYSPLASIA, Focal Segmental, GENE-EXPRESSION, Genetic Heterogeneity, Genocopy, Glomerulosclerosis, HELICASE, heterogeneity, Humans, IMMUNODEFICIENCY, IMMUNO-OSSEOUS DYSPLASIA, LOCUS, Lymphopenia, Mutation, Nephrotic Syndrome, Osteochondrodysplasias, Phenotype, Preschool, PROTEIN, Proteinuria, SCHIMKE IMMUNOOSSEOUS DYSPLASIA

وصف الملف: 801–811

العلاقة: urn:issn:0340-6199; urn:issn:1432-1076

الإتاحة: https://bibliographie.ub.rub.de/entry/2ce04e42-ccdd-4ca7-8bd7-c9f3a2ae751bTest

المؤلفون: Höcker, Britta, Weber, Lutz T., Feneberg, Reinhard, Drube, Jens, John, Ulrike, Fehrenbach, Henry, Pohl, Martin, Zimmering, Miriam, Fründ, Stefan, Klaus, Günter, Wühl, Elke, Tönshoff, Burkhard

المصدر: Transplantation. - 87, 6 (2009) , 934-941, ISSN: 0041-1337

العلاقة: https://freidok.uni-freiburg.de/data/82759Test

الإتاحة: https://doi.org/10.1097/tp.0b013e31819b6d4aTest
https://freidok.uni-freiburg.de/data/82759Test

المؤلفون: Utsch, Boris, Bökenkamp, Arend, Benz, Marcus R., Besbas, Nesrin, Dötsch, Jörg, Franke, Ingo, Fründ, Stefan, Gok, Faysal, Hoppe, Bernd, Karle, Stephanie, Kuwertz-Bröking, Eberhard, Laube, Guido, Neb, Margarita, Nuutinen, Matti, Ozaltin, Fatih, Rascher, Wolfgang, Ring, Troels, Tasic, Velibor, van Wijk, Joanna A.E., Ludwig, Michael

المصدر: Utsch , B , Bökenkamp , A , Benz , M R , Besbas , N , Dötsch , J , Franke , I , Fründ , S , Gok , F , Hoppe , B , Karle , S , Kuwertz-Bröking , E , Laube , G , Neb , M , Nuutinen , M , Ozaltin , F , Rascher , W , Ring , T , Tasic , V , van Wijk , J A E & Ludwig , M 2006 , ' Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease ' , ....

العلاقة: https://research.vumc.nl/en/publications/cb626540-6ebb-4a3f-a27f-960e85a6a1bdTest

الإتاحة: https://doi.org/10.1053/j.ajkd.2006.08.018Test
https://research.vumc.nl/en/publications/cb626540-6ebb-4a3f-a27f-960e85a6a1bdTest
http://www.scopus.com/inward/record.url?scp=33845439113&partnerID=8YFLogxKTest

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: Boekenkamp, Arend, Benz, Marcus R., Ring, Troels, Kuwertz-Broeking, Eberhard, Utsch, Boris, van Wijk, Joanna A. E., Karle, Stephanie, Laube, Guido, Neb, Margarita, Hoppe, Bernd, Gok, Faysal, Fruend, Stefan, Franke, Ingo, Tasic, Velibor, Nuutinen, Matti, Doetsch, Joerg, Besbas, Nesrin, Rascher, Wolfgang, Ozaltin, Fatih, Ludwig, Michael

العلاقة: ec41e5a4-a503-477b-9863-a5b414d87255; https://avesis.hacettepe.edu.tr/publication/details/ec41e5a4-a503-477b-9863-a5b414d87255/oaiTest

الإتاحة: https://doi.org/10.1053/j.ajkd.2006.08.018Test
https://avesis.hacettepe.edu.tr/publication/details/ec41e5a4-a503-477b-9863-a5b414d87255/oaiTest