المؤلفون: Hara, Takafumi, Yamada, Ikuko, Ohashi, Takuto, Tamura, Masaru, Hijikata, Atsushi, Watanabe, Takashi, Gao, Minghao, Ito, Kana, Kawamata, Saeko, Azuma, Shiori, Yoshigai, Emi, Sumiyoshi, Yukiko, Yasuhiro, Natsumi, Ohara, Osamu, Santos, Heloísa G. dos, Fukada, Toshiyuki

المساهمون: Zhou, Lufang

المصدر: PLOS ONE ; volume 17, issue 10, page e0276452 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0276452Test

المؤلفون: Santos,Heloísa G.

وصف الملف: text/html

العلاقة: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542012000400017Test

الإتاحة: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542012000400017Test

المؤلفون: Santos, Heloísa G.

المصدر: Portuguese Journal of Pediatrics; Vol. 47 No. 4 (2016); 346-355 ; Portuguese Journal of Pediatrics; Vol. 47 N.º 4 (2016); 346-355 ; 2184-4453 ; 2184-3333

مصطلحات موضوعية: Rastreios genéticos, programa nacional diagnóstico precoce no Recém-Nascido, testes genéticos, consentimento informado, interesse superior da criança

وصف الملف: application/pdf

العلاقة: https://ojs.pjp.spp.pt/article/view/10418/7467Test; https://ojs.pjp.spp.pt/article/view/10418Test

الإتاحة: https://ojs.pjp.spp.pt/article/view/10418Test

المؤلفون: Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, Stavit A., Superti-Furga, Andrea, Delezoide, Anne-Lise, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

المصدر: The American Journal of Human Genetics ; volume 92, issue 1, page 144-149 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.11.015Test
https://api.elsevier.com/content/article/PII:S0002929712006283?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712006283?httpAccept=text/plainTest

المؤلفون: Allali, Slimane, Le Goff, Carine, Pressac-Diebold, Isabelle, Pfenning, Gwendolyne, Mahaut, Clã©mentine, Dagoneau, Nathalie, Alanay, Yasemin, Brady, Angela F., Crow, Yanick J., Devriendt, Koen, Drouin-Garraud, Valérie, Flori, Elisabeth, Genevieve, David, Hennekam, Raoul C., Hurst, Jane A, Krakow, Deborah, Le Merrer, Martine, Lichtenbelt, K. D., Lynch, Sally A., Lyonnet, Stanislas, Macdermot, K., Mansour, Sahar, Mégarbané, André, Santos, Heloisa G., Splitt, Miranda, Superti-Furga, Andrea, Unger, Sheila, Williams, Denise, Munnich, Arnold, Cormier-Daire, Valerie

المساهمون: Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Ankara University School of Medicine Turkey, North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, Genetic Medicine, University of Manchester, Manchester Academic Heath Science Centre, Department of Medical Genetics, Leuven University Hospital, Leuven, Hôpital Charles Nicolle Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Department of genetics, Strasbourg hospital, Strasbourg, Service de Génétique Médicale, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Department of Pediatrics, Academic Medical Center, University of Amsterdam, Departement of Clinical Genetics, Oxford Radcliffe Hospitals, Cedars-Sinai Medical Center, University Medical Center Utrecht, National Center for Medical Genetics, Dublin, SW Thames Regional Genetics Service, St Georgeâ™s University of London, London, Université Saint-Joseph de Beyrouth (USJ), Department of Medical Genetics , Lisboa, Institute of Human Genetics, Newcastle, Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Birmingham women's hospital, Birmingham

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: Genetics, Clinical genetics, Connective tissue disease

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21415077; hal-00614843; https://hal.science/hal-00614843Test; https://hal.science/hal-00614843/documentTest; https://hal.science/hal-00614843/file/PEER_stage2_10.1136%252Fjmg.2010.087544.pdfTest; PUBMED: 21415077

الإتاحة: https://doi.org/10.1136/jmg.2010.087544Test
https://hal.science/hal-00614843Test
https://hal.science/hal-00614843/documentTest
https://hal.science/hal-00614843/file/PEER_stage2_10.1136%252Fjmg.2010.087544.pdfTest

المؤلفون: Agarwal, Anil K., Xing, Chao, DeMartino, George N., Mizrachi, Dario, Hernandez, Maria Dolores, Sousa, Ana Berta, Martínez de Villarreal, Laura, dos Santos, Heloísa G., Garg, Abhimanyu

المصدر: The American Journal of Human Genetics ; volume 87, issue 6, page 866-872 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2010.10.031Test
https://api.elsevier.com/content/article/PII:S0002929710005471?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929710005471?httpAccept=text/plainTest

المؤلفون: Fukada, Toshiyuki, Civic, Natacha, Furuichi, Tatsuya, Shimoda, Shinji, Mishima, Kenji, Higashiyama, Hiroyuki, Idaira, Yayoi, Asada, Yoshinobu, Kitamura, Hiroshi, Yamasaki, Satoru, Hojyo, Shintaro, Nakayama, Manabu, Ohara, Osamu, Koseki, Haruhiko, Dos Santos, Heloisa G., Bonafe, Luisa, Ha-Vinh, Russia, Zankl, Andreas, Unger, Sheila, Kraenzlin, Marius E., Beckmann, Jacques S., Saito, Ichiro, Rivolta, Carlo, Ikegawa, Shiro, Superti-Furga, Andrea, Hirano, Toshio

وصف الملف: application/pdf

العلاقة: https://edoc.unibas.ch/81796/1/20210208120046_602119de3844d.pdfTest; Fukada, Toshiyuki and Civic, Natacha and Furuichi, Tatsuya and Shimoda, Shinji and Mishima, Kenji and Higashiyama, Hiroyuki and Idaira, Yayoi and Asada, Yoshinobu and Kitamura, Hiroshi and Yamasaki, Satoru and Hojyo, Shintaro and Nakayama, Manabu and Ohara, Osamu and Koseki, Haruhiko and Dos Santos, Heloisa G. and Bonafe, Luisa and Ha-Vinh, Russia and Zankl, Andreas and Unger, Sheila and Kraenzlin, Marius E. and Beckmann, Jacques S. and Saito, Ichiro and Rivolta, Carlo and Ikegawa, Shiro and Superti-Furga, Andrea and Hirano, Toshio. (2008) The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PloS one, 3 (11). e3642.; info:pmid/18985159; urn:ISSN:1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0003642Test
https://edoc.unibas.ch/81796Test/
https://edoc.unibas.ch/81796/1/20210208120046_602119de3844d.pdfTest

المؤلفون: Fukada, Toshiyuki, Civic, Natacha, Furuichi, Tatsuya, Shimoda, Shinji, Mishima, Kenji, Higashiyama, Hiroyuki, Idaira, Yayoi, Asada, Yoshinobu, Kitamura, Hiroshi, Yamasaki, Satoru, Hojyo, Shintaro, Nakayama, Manabu, Ohara, Osamu, Koseki, Haruhiko, dos Santos, Heloisa G., Bonafe, Luisa, Ha-Vinh, Russia, Zankl, Andreas, Unger, Sheila, Kraenzlin, Marius E., Beckmann, Jacques S., Saito, Ichiro, Rivolta, Carlo, Ikegawa, Shiro, Superti-Furga, Andrea, Hirano, Toshio

المصدر: PLoS ONE ; volume 3, issue 11 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/annotation/a6c35a12-e8eb-43a0-9d00-5078fa6da1bbTest

المؤلفون: Saraiva, Jorge M, Anionwu, Elizabeth, Belo, Maria, Jenkins, Trefor, Kristoffersson, Ulf, Marques, Isabel, Santos, Heloisa G, Sequeiros, Jorge, Simpsom, Sheila A, Wertz, Dorothy, Monteiro, Carolino

المصدر: Genetics in Medicine ; volume 3, issue 3, page 218-219 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1097/00125817-200105000-00013Test
https://api.elsevier.com/content/article/PII:S1098360021008996?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021008996?httpAccept=text/plainTest

المؤلفون: Harris, Rodney, Oliveira, Joao Paulo, Santos, Heloisa G

المصدر: European Journal of Human Genetics ; volume 8, issue 1, page 3-3 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5200408Test
http://www.nature.com/articles/5200408.pdfTest
http://www.nature.com/articles/5200408Test