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

مصطلحات موضوعية: 3. Good health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c800d624baebea434e240e2ee6a31ed2Test

المؤلفون: ALPAY, HARİKA

المساهمون: Hunter, Kshamta B., Luecke, Thomas, Spranger, Juergen, Smithson, Sarah F., Alpay, Harika, Andre, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fruend, 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.

مصطلحات موضوعية: Genocopy, Immunodeficiency, Proteinuria, Skeletal dysplasia, Locus heterogeneity, Schimke immunoosseous dysplasia, IMMUNO-OSSEOUS DYSPLASIA, NEPHROTIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, GENE-EXPRESSION, ASSOCIATION, SIBLINGS, HELICASE, PROTEIN

وصف الملف: application/pdf

العلاقة: EUROPEAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/11424/244136Test; WOS:000278090600005

الإتاحة: https://doi.org/10.1007/s00431-009-1115-9Test
https://hdl.handle.net/11424/244136Test

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

المساهمون: Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pediatrics, Hunter, Kshamta B., Luecke, Thomas, Spranger, Juergen, Smithson, Sarah F., Alpay, Harika, Andre, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fruend, 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
European Journal of Pediatrics, 2010, 169 (7), pp.801-811. ⟨10.1007/s00431-009-1115-9⟩
European Journal of Pediatrics, 169, 801-811. Springer-Verlag

مصطلحات موضوعية: Pathology, Genocopy, [SDV]Life Sciences [q-bio], PROTEIN, medicine.disease_cause, Glomerulosclerosis, 0302 clinical medicine, Focal segmental glomerulosclerosis, Locus heterogeneity, NEPHROTIC SYNDROME, Diagnosis, Medicine, Child, GENE-EXPRESSION, 0303 health sciences, Mutation, Glomerulosclerosis, Focal Segmental, ASSOCIATION, Syndrome, 3. Good health, SIBLINGS, Proteinuria, Phenotype, Sella turcica, medicine.anatomical_structure, Child, Preschool, Skeletal dysplasia, Bone and Bones/radiography, Adult, Spondyloepiphyseal dysplasia, medicine.medical_specialty, Adolescent, Osteochondrodysplasias, SPONDYLOEPIPHYSEAL DYSPLASIA, Bone and Bones, Diagnosis, Differential, Genetic Heterogeneity, 03 medical and health sciences, Lymphopenia, Lymphopenia/genetics, Immunodeficiency, Humans, Pediatrics, Perinatology, and Child Health, HELICASE, Preschool, 030304 developmental biology, Original Paper, business.industry, Genetic heterogeneity, DNA Helicases/genetics, DNA Helicases, Focal Segmental/genetics, Schimke immunoosseous dysplasia, medicine.disease, T cell deficiency, Radiography, Differential, Pediatrics, Perinatology and Child Health, Osteochondrodysplasias/genetics/radiography, IMMUNO-OSSEOUS DYSPLASIA, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75061c6bbd7529a743f53f8089870c9dTest
https://doi.org/10.1007/s00431-009-1115-9Test

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