المؤلفون: Dorfman, Luiza E., Silva, Agnes F. R. P., Paskulin, Giorgio A., Rosa, Rafael F. M., Zen, Paulo R. G.

المصدر: Jornal Brasileiro de Patologia e Medicina Laboratorial. August 2015 51(4)

مصطلحات موضوعية: karyotype, fibroblasts, human chromosomes pair 13, chromosome aberrations, genetic counseling

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442015000400229Test

المؤلفون: Rosa, Rafael F. M., Rosa, Rosana Cardoso Manique, Lorenzen, Marina Boff, Zen, Paulo R. G., Oliveira, Ceres A. V. de, Graziadio, Carla, Paskulin, Giorgio A.

المصدر: Jornal de Pediatria. October 2012 88(5)

مصطلحات موضوعية: Cromossomos humanos, par 18, trissomia, aberrações cromossômicas, extremidades

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572012000500008Test

المؤلفون: Zen, Paulo R. G., Daudt, Liane E., Rosa, Rafael F. M., Paskulin, Giorgio A.

المصدر: Revista Brasileira de Hematologia e Hemoterapia. January 2009 31(5)

مصطلحات موضوعية: Leucemia, síndrome de Down, fusão TEL/AML1

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842009000500008Test

المؤلفون: Trevisan, Patricia, Graziadio, Carla, Rodrigues, Dayane Bohn Koshiyama, Rosa, Rafael Fabiano Machado, Soares, Fabiano Pasqualotto, Provenzi, Valentina Oliveira, de Oliveira, Ceres Andréia Vieira, Paskulin, Giorgio Adriano, Varella-Garcia, Marileila, Zen, Paulo Ricardo Gazzola

المساهمون: Molecular Pathology Shared Resource of the University of Colorado Cancer Center, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Brazilian Agency Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, NIH

المصدر: Journal of Neuropathology & Experimental Neurology ; volume 78, issue 4, page 297-304 ; ISSN 0022-3069 1554-6578

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Neurology, General Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1093/jnen/nlz006Test
http://academic.oup.com/jnen/article-pdf/78/4/297/36609465/nlz006.pdfTest

المؤلفون: Tommerup, Niels, Fonseca, Ana Carolina, Mehrjouy, Mana, Rasmussen, Malene B., Bache, Iben, Halgren, Christina, Kroisel, Peter, Midyan, Susanna, Vermeesch, Joris, Vianna-Morgante, Angela M., Abe, Kikue T., Moretti-Ferreira, Danilo, Paskulin, Giorgio, Angelova, Lyudmila, Rajcan-Separovic, Evica, Sismani, Carolina, Sedlacek, Zdenek, Fagerberg, Christina, Brondum-Nielsen, Karen, Vogel, Ida, Bojesen, Anders, Ounap, Katrin, Roht, Laura, Varilo, Teppo, Luukkonen, Tiia, Lespinasse, James, Beneteau, Claire, Kalscheuer, Vera M., Ehmke, Nadja, Daumer-Haas, Cornelia, Stefanou, Eunice G., Marta Czako, Kosztolanyi, Gyorgy, Sheth, Frenny, Zuffardi, Orsetta, Bonaglia, Clara, Novelli, Antonio, Fannemel, Madeleine, Dias, Patricia, Kokalj-Vokac, Nadja, Ramos-Arroyo, Maria A., Rodriguez Martinez, Laura, Guitart, Miriam, Schinzel, Albert, Engelen, John, Silan, Fatma, Akkari, Yassmine, Batanian, Jacqueline R., Kim, Hyung-Goo, Aristidou, Constantia, De Almeida, Cynthia, Lewis, Suzanne, Moreno-Igoa, Maria, Hovhannisyan, Anna, Jacky, Peter, Bak, Mads, Int Breakpoint Mapping Consortium

المساهمون: Universidade Estadual Paulista (UNESP)

العلاقة: Molecular Cytogenetics; 0,623; Molecular Cytogenetics. London: Biomed Central Ltd, v. 10, 1 p., 2017.; http://hdl.handle.net/11449/163278Test; WOS:000410864800217

الإتاحة: http://hdl.handle.net/11449/163278Test

المؤلفون: Mehrjouy, Mana M, Fonseca, Ana Carolina S, Ehmke, Nadja, Paskulin, Giorgio, Novelli, Antonio, Benedicenti, Francesco, Mencarelli, Maria Antonietta, Renieri, Alessandra, Busa, Tiffany, Missirian, Chantal, Hansen, Claus, Abe, Kikue Terada, Speck-Martins, Carlos Eduardo, Vianna-Morgante, Angela M, Bak, Mads, Tommerup, Niels

المصدر: Mehrjouy , M M , Fonseca , A C S , Ehmke , N , Paskulin , G , Novelli , A , Benedicenti , F , Mencarelli , M A , Renieri , A , Busa , T , Missirian , C , Hansen , C , Abe , K T , Speck-Martins , C E , Vianna-Morgante , A M , Bak , M & Tommerup , N 2018 , ' Regulatory variants of FOXG1 in the context of its topological domain organisation ' , European Journal of Human Genetics , vol. 26 , no. 2 , ....

الإتاحة: https://doi.org/10.1038/s41431-017-0011-4Test
https://curis.ku.dk/portal/da/publications/regulatory-variants-of-foxg1-in-the-context-of-its-topological-domain-organisationTest(c59b7dc6-5218-457f-93cb-cdf3fee1a686).html
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839045/pdf/41431_2017_Article_11.pdfTest

المؤلفون: Mehrjouy, Mana M, Fonseca, Ana Carolina S., Ehmke, Nadja, Paskulin, Giorgio, Novelli, Antonio, Benedicenti, Francesco, Mencarelli, Maria Antonietta, Renieri, Alessandra, Busa, Tiffany, Missirian, Chantal, Hansen, Claus, Abe, Kikue Terada, Speck-Martins, Carlos Eduardo, Vianna-Morgante, Angela M., Bak, Mads, Tommerup, Niels

المصدر: European Journal of Human Genetics ; volume 26, issue 2, page 186-196 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-017-0011-4Test
http://www.nature.com/articles/s41431-017-0011-4.pdfTest
http://www.nature.com/articles/s41431-017-0011-4Test

المؤلفون: Goetze, Thayse Bienert, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado, Paskulin, Giorgio Adriano, Sleifer, Pricila, Fallavena, Paulo Roberto Vargas

المساهمون: Hospital de Clínicas de Porto Alegre. Semana Científica. (29. : 2009 : Porto Alegre, RS)

مصطلحات موضوعية: Fonoaudiologia : Eventos

وصف الملف: application/pdf

العلاقة: Revista HCPA. Porto Alegre; http://hdl.handle.net/10183/126943Test; 000781126

الإتاحة: http://hdl.handle.net/10183/126943Test

المؤلفون: Moraes, Felipe Nora de, Graziadio, Carla, Paskulin, Giorgio Adriano, Lorenzen, Marina Boff, Rosa, Rafael Fabiano Machado, Pereira, Vera Lúcia Berenstein

المساهمون: Zen, Paulo Ricardo Gazzola, Salão de Iniciação Científica (21. : 2009 out. 19-23 : UFRGS, Porto Alegre, RS).

مصطلحات موضوعية: Genética clínica, Bioquímica, fisiologia e genética clínica, Ciências da saúde, Medicina

وصف الملف: application/pdf

العلاقة: Salão de Iniciação Científica (21. : 2009 out. 19-23 : Porto Alegre, RS). Livro de resumos. Porto Alegre : UFRGS, 2009.; http://hdl.handle.net/10183/43798Test; 474

الإتاحة: http://hdl.handle.net/10183/43798Test

المؤلفون: Trevisan, Patricia, Graziadio, Carla, Paskulin, Giorgio Adriano, Rosa, Rafael Fabiano Machado, Zen, Tatiana Diehl, Pereira, Vera Lúcia Berenstein

المساهمون: Zen, Paulo Ricardo Gazzola, Salão de Iniciação Científica (21. : 2009 out. 19-23 : UFRGS, Porto Alegre, RS).

مصطلحات موضوعية: Genética clínica, Bioquímica, fisiologia e genética clínica, Ciências da saúde, Medicina

وصف الملف: application/pdf

العلاقة: Salão de Iniciação Científica (21. : 2009 out. 19-23 : Porto Alegre, RS). Livro de resumos. Porto Alegre : UFRGS, 2009.; http://hdl.handle.net/10183/43785Test; 379

الإتاحة: http://hdl.handle.net/10183/43785Test