المؤلفون: Mao, Ke, Borel, Christelle, Ansar, Muhammad, Jolly, Angad, Makrythanasis, Periklis, Froehlich, Christine, Iwaszkiewicz, Justyna, Wang, Bingqing, Xu, Xiaopeng, Li, Qiang, Blanc, Xavier, Zhu, Hao, Chen, Qi, Jin, Fujun, Ankamreddy, Harinarayana, Singh, Sunita, Zhang, Hongyuan, Wang, Xiaogang, Chen, Peiwei, Ranza, Emmanuelle, Paracha, Sohail Aziz, Shah, Syed Fahim, Guida, Valentina, Piceci-Sparascio, Francesca, Melis, Daniela, Dallapiccola, Bruno, Digilio, Maria Cristina, Novelli, Antonio, Magliozzi, Monia, Fadda, Maria Teresa, Streff, Haley, Machol, Keren, Lewis, Richard A., Zoete, Vincent, Squeo, Gabriella Maria, Prontera, Paolo, Mancano, Giorgia, Gori, Giulia, Mariani, Milena, Selicorni, Angelo, Psoni, Stavroula, Fryssira, Helen, Douzgou, Sofia, Marlin, Sandrine, Biskup, Saskia, De Luca, Alessandro, Merla, Giuseppe, Zhao, Shouqin, Cox, Timothy C., Groves, Andrew K.

المساهمون: ChildCare Foundation

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-023-37703-6
https://www.nature.com/articles/s41467-023-37703-6.pdf
https://www.nature.com/articles/s41467-023-37703-6

المؤلفون: Fryssira, Helena, Psoni, Stavroula, Amenta, Styliani, Tsoutsou, Eirini, Sofocleous, Christalena, Manolakos, Emmanouil, Gavra, Maria, Lüdecke, Hermann-Joseph, Czeschik, Johanna-Christina

المصدر: Molecular Syndromology ; volume 8, issue 4, page 206-210 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000471247
https://www.karger.com/Article/Pdf/471247

المؤلفون: Fehr, Stephanie, Wilson, Meredith, Downs, Jenny, Williams, Simon, Murgia, Alessandra, Sartori, Stefano, Vecchi, Marilena, Ho, Gladys, Polli, Roberta, Psoni, Stavroula, Bao, Xinhua, de Klerk, Nick, Leonard, Helen, Christodoulou, John

المصدر: European Journal of Human Genetics ; volume 21, issue 3, page 266-273 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2012.156
http://www.nature.com/articles/ejhg2012156.pdf
http://www.nature.com/articles/ejhg2012156

المؤلفون: Psoni, Stavroula, Sofocleous, Christalena, Traeger-Synodinos, Joanne, Kitsiou-Tzeli, Sophia, Kanavakis, Emmanuel, Fryssira-Kanioura, Helen

المصدر: Pediatric Research ; volume 67, issue 5, page 551-556 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/pdr.0b013e3181d4ecf7

المؤلفون: Leventopoulos, George, Kitsiou-Tzeli, Sophia, Psoni, Stavroula, Mavrou, Ariadni, Kanavakis, Emmanuel, Willems, Patrick, Fryssira, Helen

المصدر: Hormone Research in Paediatrics ; volume 71, issue 1, page 45-51 ; ISSN 1663-2818 1663-2826

الاتاحة: https://doi.org/10.1159/000173741
https://www.karger.com/Article/Pdf/173741

المؤلفون: Makrythanasis, Periklis, Nelis, Mari, Santoni, Federico, Guipponi, Michel, Vannier, Anne, Sloan Bena, Frédérique, Gimelli, Stefania, Stathaki, Elissavet, Temtamy, Samia, Mégarbané, André, Masri, Amira, Aglan, Mona S, Zaki, Maha S, Bottani, Armand, Fokstuen, Siv, Gwanmesia, Lorraine Mukud, Aliferis, Konstantinos, Bustamante Eduardo, Mariana, Stamoulis, Georgios, Psoni, Stavroula, Kitsiou-Tzeli, Sofia, Fryssira, Helen, Kanavakis, Emmanouil, Al-Allawi, Nasir, Sefiani, Abdelaziz, Al Hait, Sana', Elalaoui, Siham C, Jalkh, Nadine, Al-Gazali, Lihadh, Al-Jasmi, Fatma, Bouhamed, Habiba Chaabouni, Abdalla, Ebtesam, Cooper, David N, Antonarakis, Stylianos, Hamamy, Hanan

المصدر: ISSN: 1059-7794 ; Human mutation, vol. 35, no. 10 (2014) p. 1203-1210.

مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5

Relation: info:eu-repo/semantics/altIdentifier/pmid/25044680; https://archive-ouverte.unige.ch/unige:42302; unige:42302

الاتاحة: https://archive-ouverte.unige.ch/unige:42302

المؤلفون: Psoni, Stavroula, Sofocleous, Christalena, Traeger-Synodinos, Joanne, Kitsiou-Tzeli, Sophia, Kanavakis, Emmanuel, Fryssira-Kanioura, Helen

المصدر: Brain and Development ; volume 34, issue 6, page 487-495 ; ISSN 0387-7604

الاتاحة: http://dx.doi.org/10.1016/j.braindev.2011.09.002
https://api.elsevier.com/content/article/PII:S038776041100249X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S038776041100249X?httpAccept=text/plain

المؤلفون: Psoni, Stavroula, Willems, Patrick J., Kanavakis, Emmanuel, Mavrou, Ariadne, Frissyra, Helen, Traeger-Synodinos, Joanne, Sofokleous, Christalena, Makrythanassis, Periklis, Kitsiou-Tzeli, Sophia

المصدر: European Journal of Paediatric Neurology ; volume 14, issue 2, page 188-191 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2009.03.006
https://api.elsevier.com/content/article/PII:S1090379809000622?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379809000622?httpAccept=text/plain

المؤلفون: Leventopoulos, George, Kitsiou-Tzeli, Sophia, Kritikos, Konstantinos, Psoni, Stavroula, Mavrou, Ariadni, Kanavakis, Emmanuel, Fryssira, Helen

المصدر: Pediatric Neurology ; volume 40, issue 5, page 357-364 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2008.11.013
https://api.elsevier.com/content/article/PII:S0887899408006218?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899408006218?httpAccept=text/plain

المؤلفون: Psoni, Stavroula, Traeger-Synodinos, Joanne, Sofocleous, Christalena, Kitsiou-Tzeli, Sophia, Mavrou, Ariadni, Kanavakis, Emmanuel, Fryssira, Helen

Relation: uoadl:3137986; https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3137986

الاتاحة: https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3137986

المؤلفون: Psoni, Stavroula Sofocleous, Christalena Traeger-Synodinos, Joanne Kitsiou-Tzeli, Sophia Kanavakis, Emmanuel and Fryssira-Kanioura, Helen

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::7b39e4dd4a6e754be86376c791035eb6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3145854

المؤلفون: Fryssira, Helen, Leventopoulos, George, Psoni, Stavroula, Kitsiou-Tzeli, Sophia, Stavrianeas, Nikolaos, Kanavakis, Emmanuel

المصدر: European Journal of Pediatrics ; volume 167, issue 9, page 1025-1031 ; ISSN 0340-6199 1432-1076

الاتاحة: http://dx.doi.org/10.1007/s00431-007-0636-3
http://link.springer.com/content/pdf/10.1007/s00431-007-0636-3.pdf
http://link.springer.com/article/10.1007/s00431-007-0636-3/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00431-007-0636-3

المؤلفون: Leventopoulos, George Kitsiou-Tzeli, Sophia Kritikos, Konstantinos Psoni, Stavroula Mavrou, Ariadni Kanavakis, Emmanuel Fryssira, Helen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::ed21621217e176667fa64cfc7c511bd5
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3142310

المؤلفون: Leventopoulos, George Kitsiou-Tzeli, Sophia Psoni, Stavroula and Mavrou, Ariadni Kanavakis, Emmanuel Willems, Patrick and Fryssira, Helen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::baaeda399accef4297f0ddd046272b0a
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3141039

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

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

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

المؤلفون: Psoni, Stavroula Traeger-Synodinos, Joanne Sofocleous, Christalena Kitsiou-Tzeli, Sophia Mavrou, Ariadni Kanavakis, Emmanuel Fryssira, Helen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::9fb2c46035b0694f779d9dce146e0c37
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3137986

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.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::3c78f23575b16c29f3bdf0af59eebbfc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3116329

المؤلفون: Fehr, Stephanie, Wilson, Meredith, Downs, Jenny, Williams, Simon, Murgia, Alessandra, Sartori, Stefano, Vecchi, Marilena, Ho, Gladys, Polli, Roberta, Psoni, Stavroula, Bao, Xinhua, de Klerk, Nick, Leonard, Helen, Christodoulou, John

المصدر: European Journal of Human Genetics; Mar2013, Vol. 21 Issue 3, p266-273, 8p, 1 Color Photograph, 5 Charts, 3 Graphs

مصطلحات موضوعية: CYCLIN-dependent kinases, RETT syndrome, MUSCLE dysmorphia, NATURAL history, PHENOTYPES

المؤلفون: Leventopoulos, George, Kitsiou-Tzeli, Sophia, Psoni, Stavroula, Mavrou, Ariadni, Kanavakis, Emmanuel, Willems, Patrick, Fryssira, Helen

المصدر: Hormone Research; 2009, Vol. 71 Issue 1, p45-51, 7p, 2 Black and White Photographs, 1 Diagram, 3 Charts

مصطلحات موضوعية: GENETIC mutation, CYSTIC kidney disease, HUMAN growth, GREEKS

المؤلفون: Fryssira, Helen, Leventopoulos, George, Psoni, Stavroula, Kitsiou-Tzeli, Sophia, Stavrianeas, Nikolaos, Kanavakis, Emmanuel

المصدر: European Journal of Pediatrics; Sep2008, Vol. 167 Issue 9, p1025-1031, 7p, 5 Color Photographs, 2 Black and White Photographs, 1 Chart

مصطلحات موضوعية: SYNDROMES, CARDIOVASCULAR diseases, CANCER invasiveness, GENE expression, ASTROCYTOMAS