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: 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: 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: Morimoto, Marie Yu, Zhongxin Stenzel, Peter Clewing, J. Marietta Najafian, Behzad Mayfield, Christy Hendson, Glenda and Weinkauf, Justin G. Gormley, Andrew K. Parham, David M. and Ponniah, Umakumaran Andre, Jean-Luc Asakura, Yumi and Basiratnia, Mitra Bogdanovic, Radovan Bokenkamp, Arend and Bonneau, Dominique Buck, Anna Charrow, Joel Cochat, Pierre and Cordeiro, Isabel Deschenes, Georges Fenkci, M. Semin and Frange, Pierre Fruend, Stefan Fryssira, Helen and Guillen-Navarro, Encarna Keller, Kory Kirmani, Salman and Kobelka, Christine Lamfers, Petra Levtchenko, Elena Lewis, David B. Massella, Laura McLeod, D. Ross Milford, David V. and Nobili, Francois Saraiva, Jorge M. Semerci, C. Nur and Shoemaker, Lawrence Stajic, Natasa Stein, Anja Taha, Doris and Wand, Dorothea Zonana, Jonathan Luecke, Thomas Boerkoel, Cornelius F.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::8969a5a9b7faa6f86dbb5d616316ca25Test
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3153808Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::8f0d2b69aae0fb36c56d29d83ae090c7Test
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3146398Test

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: Sloan, Emily A., Elizondo, Leah I., Huang, Cheng, André, Jean-Luc, Bogdanovic, Radovan, Cockfield, Sandra, Cordeiro, Isabel, Deschenes, Georges, Fründ, Stefan, Kaitila, Ilkka, Lama, Giuliana, Lamfers, Petra, Lücke, Thomas, Milford, David V., Najera, Lydia, Rodrigo, Francisco, Saraiva, Jorge M., Schmidt, Beate, Smith, Graham C., Stajic, Nastasa, Stein, Anja, Taha, Doris, Wand, Dorothea, Armstrong, Dawna, Boerkoel, Cornelius F.

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/İmmünoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Nefroloji Anabilim Dalı., orcid:0000-0001-8571-2581, Kılıç, Sara Şebnem, Dönmez, Osman, AAH-1658-2021, 34975059200, 19033971800

مصطلحات موضوعية: Migraine, Immunodeficiency, Skeletal dysplasia, Headache, Renal failure, Nephrotic syndrome, Immunoosseous dysplasia, Spondyloepiphyseal dysplasia, Disease, Genetics & heredity, Gene product, Minoxidil, Protein SMARCAL1, Unclassified drug, Vasodilator agent, Bone dysplasia, Case report, Child, Disease association, Gene mutation, Human, Kidney disease, Male, Neuroimmunology, Schimke immunoosseous dysplasia, T cell depletion

العلاقة: Makale - Uluslararası Hakemli Dergi; American Journal of Medical Genetics Part A; Yurt dışı; Sanayi; Kılıç, S. Ş. vd. (2005). "Association of migraine-like headaches with schimke immuno-osseous dysplasia". American Journal of Medical Genetics Part A, 135A(2), 206-210.; https://doi.org/10.1002/ajmg.a.30692Test; http://hdl.handle.net/11452/21370Test; 000229488000019; 2-s2.0-20044373274; 206; 210; 135A

الإتاحة: https://doi.org/10.1002/ajmg.a.30692Test
http://hdl.handle.net/11452/21370Test

المؤلفون: Kilic, Sara Sebnem, Donmez, Osman, Sloan, Emily A., Elizondo, Leah I., Huang, Cheng, André, Jean‐Luc, Bogdanovic, Radovan, Cockfield, Sandra, Cordeiro, Isabel, Deschenes, Georges, Fründ, Stefan, Kaitila, Ilkka, Lama, Giuliana, Lamfers, Petra, Lücke, Thomas, Milford, David V., Najera, Lydia, Rodrigo, Francisco, Saraiva, Jorge M., Schmidt, Beate, Smith, Graham C., Stajic, Nastasa, Stein, Anja, Taha, Doris, Wand, Dorothea, Armstrong, Dawna, Boerkoel, Cornelius F.

المصدر: American Journal of Medical Genetics Part A ; volume 135A, issue 2, page 206-210 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.30692Test

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: 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: 3. Good health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d037031626b6a285c57e66eecf7016a9Test