Browsing by Subject Doenças do desenvolvimento ósseo

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Showing results 1 to 4 of 4
PreviewIssue DateTitleAuthor(s)AdvisorType
2016Investigação das displasias esqueléticas associadas a luxações e outros problemas articulares a partir do sequenciamento de um painel de genes FLNB, CANT1, XYLT1, KIF22, B3GALT6, CHST3, SLC26A2/DTDST e IMPAD1Silveira, Cynthia, 1989-Cavalcanti, Denise Pontes, 1957-DISSERTAÇÃO DIGITAL
2016Avaliação clínica e radiográfica de pacientes afetados por displasia óssea florida - estudo retrospectivo e multicêntrico colaborativo = Clinical and radiological evaluation of patients affected by florid osseous dysplasia - a multicenter collaborative and retrospective studyPereira, Débora Lima, 1988-Vargas, Pablo Agustin, 1973-DISSERTAÇÃO DIGITAL
2019Hypomorphic mutations in tonsl cause sponastrime dysplasiaChang, Hae Ryung; Cho, Sung Yoon; Lee, Jae Hoon; Lee, Eunkyung; Seo, Jieun; Lee, Hye Ran; Cavalcanti, Denise P.; Makitie, Outi; Valta, Helena; Girisha, Katta M.; Lee, Chung; Neethukrishna, Kausthubham; Bhavani, Gandham S.; Shukla, Anju; Nampoothiri, Sheela; Phadkei, Shubha R.; Park, Mi Jung; Ikegawa, Shiro; Wang, Zheng; Higgs, Martin R.; Stewart, Grant S.; Jung, Eunyoung; Lee, Myeong-Sok; Park, Jong Hoon; Lee, Eun A.; Kim, Hongtae; Myung, Kyungjae; Jeon, Woosung; Lee, Kyoungyeul; Kim, Dongsup; Kim, Ok-Hwa; Choi, Murim; Lee, Han-Woong; Kim, Yonghwan; Cho, Tae-Joon-Artigo
2019Identification of novel and recurrent RMRP variants in a series of Brazilian patients with cartilage-hair hypoplasia: McKusick syndromeGomes, Maria E.; Calatrava Paternostro, Luiza; Moura, Valeria R.; Antunes, Deborah; Caffarena, Ernesto R.; Horovitz, Dafne; Sanseverino, Maria T.; Ferraz Leal, Gabriela; Felix, Temis M.; Pontes Cavalcanti, Denise; Clinton Llerena, Juan Jr.; Gonzalez, Sayonara-Artigo