Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II

Detalhes bibliográficos
Autor(a) principal: Medeiros, Leonardo Simão
Data de Publicação: 2021
Outros Autores: Oliveira, Bibiana Mello de, Silva, Thiago Oliveira, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Refosco, Lilia Farret, Ludwig, Nataniel Floriano, Tonon, Tássia, Bitencourt, Fernanda Hendges de, Schwartz, Ida Vanessa Doederlein
Tipo de documento: Artigo de conferência
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/250446
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spelling Medeiros, Leonardo SimãoOliveira, Bibiana Mello deSilva, Thiago OliveiraSouza, Carolina Fischinger Moura dePoswar, Fabiano de OliveiraRefosco, Lilia FarretLudwig, Nataniel FlorianoTonon, TássiaBitencourt, Fernanda Hendges deSchwartz, Ida Vanessa DoederleinHospital de Clínicas de Porto Alegre. Semana Científica. (41. : 2021 : Porto Alegre, RS)2022-10-27T04:50:58Z2021http://hdl.handle.net/10183/250446001150574application/pdfengClinical and biomedical research. Porto AlegreMedicinaInvestigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type IIinfo:eu-repo/semantics/conferenceObjectinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001150574.pdf.txt001150574.pdf.txtExtracted Texttext/plain9179http://www.lume.ufrgs.br/bitstream/10183/250446/2/001150574.pdf.txtfc316bca1c1fdb4c5dad098d04405428MD52ORIGINAL001150574.pdfResumoapplication/pdf111798http://www.lume.ufrgs.br/bitstream/10183/250446/1/001150574.pdf278db46a9e18ee5e90b42be4d7ed945dMD5110183/2504462023-05-18 03:50:19.394271oai:www.lume.ufrgs.br:10183/250446Repositório InstitucionalPUBhttps://lume.ufrgs.br/oai/requestlume@ufrgs.bropendoar:2023-05-18T06:50:19Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II
title Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II
spellingShingle Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II
Medeiros, Leonardo Simão
Medicina
title_short Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II
title_full Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II
title_fullStr Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II
title_full_unstemmed Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II
title_sort Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II
author Medeiros, Leonardo Simão
author_facet Medeiros, Leonardo Simão
Oliveira, Bibiana Mello de
Silva, Thiago Oliveira
Souza, Carolina Fischinger Moura de
Poswar, Fabiano de Oliveira
Refosco, Lilia Farret
Ludwig, Nataniel Floriano
Tonon, Tássia
Bitencourt, Fernanda Hendges de
Schwartz, Ida Vanessa Doederlein
author_role author
author2 Oliveira, Bibiana Mello de
Silva, Thiago Oliveira
Souza, Carolina Fischinger Moura de
Poswar, Fabiano de Oliveira
Refosco, Lilia Farret
Ludwig, Nataniel Floriano
Tonon, Tássia
Bitencourt, Fernanda Hendges de
Schwartz, Ida Vanessa Doederlein
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.event.pt_BR.fl_str_mv Hospital de Clínicas de Porto Alegre. Semana Científica. (41. : 2021 : Porto Alegre, RS)
dc.contributor.author.fl_str_mv Medeiros, Leonardo Simão
Oliveira, Bibiana Mello de
Silva, Thiago Oliveira
Souza, Carolina Fischinger Moura de
Poswar, Fabiano de Oliveira
Refosco, Lilia Farret
Ludwig, Nataniel Floriano
Tonon, Tássia
Bitencourt, Fernanda Hendges de
Schwartz, Ida Vanessa Doederlein
dc.subject.por.fl_str_mv Medicina
topic Medicina
publishDate 2021
dc.date.issued.fl_str_mv 2021
dc.date.accessioned.fl_str_mv 2022-10-27T04:50:58Z
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/250446
dc.identifier.nrb.pt_BR.fl_str_mv 001150574
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identifier_str_mv 001150574
dc.language.iso.fl_str_mv eng
language eng
dc.relation.ispartof.pt_BR.fl_str_mv Clinical and biomedical research. Porto Alegre
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