Browsing by Author Steiner, CE

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Showing results 1 to 18 of 18
PreviewIssue DateTitleAuthor(s)AdvisorType
2004Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisKrakow, D; Robertson, SP; King, LM; Morgan, T; Sebald, ET; Bertolotto, C; Wachsmann-Hogiu, S; Acuna, D; Shapiro, SS; Takafuta, T; Aftimos, S; Kim, CA; Firth, H; Steiner, CE; Cormier-Daire, V; Superti-Furga, A; Bonafe, L; Graham, JM; Grix, A; Bacino, CA; Allanson, J; Bialer, MG; Lachman, RS; Rimoin, DL; Cohn, DH-Artigo de periódico
2013Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and IbCarlin, MP; Scherrer, DZ; de Tommaso, AMA; Bertuzzo, CS; Steiner, CE-Artigo de periódico
2005Laboratorial diagnosis of fragile-X syndrome - Experience in a sample of individuals with pervasive developmental disordersSteiner, CE; Guerreiro, MM; Marques-De-Faria, AP; Lopes-Cendes, I-Artigo de periódico
2010Mucopolysaccharidosis type II: skeletal-muscle system involvementMorini, SR; Steiner, CE; Gerson, LBP-Artigo de periódico
2008No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndromeAbo-Dalo, B; Roes, M; Canun, S; Delatycki, M; Gillessen-Kaesbach, G; Hrytsiuk, I; Jung, C; Kerr, B; Mowat, D; Seemanova, E; Steiner, CE; Stewart, H; Thierry, P; van Buggenhout, G; White, S; Zenker, M; Kutsche, K-Artigo de periódico
2002Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)Steiner, CE; Cintra, ML; Marques-de-Faria, AP-Artigo de periódico
2007Molecular genetics study of deafness in Brazil: 8-year experiencede Oliveira, CA; Alexandrino, F; Christiani, TV; Steiner, CE; Cunha, JLR; Guerra, ATM; Sartorato, EL-Artigo de periódico
2002Mesial temporal lobe abnormalities in a family with 15q26qter trisomyKobayashi, E; Facchin, D; Steiner, CE; Leone, AAA; Campos, NLV; Cendes, F; Lopes-Cendes, I-Artigo de periódico
2008Gray and white matter imbalance - Typical structural abnormality underlying classic autism?Bonilha, L; Cendes, F; Rorden, C; Eckert, M; Dalgalarrondo, P; Li, LM; Steiner, CE-Artigo de periódico
1996Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patientsSilveira, I; LopesCendes, I; Kish, S; Maciel, P; Gaspar, C; Coutinho, P; Botez, MI; Teive, H; Arruda, W; Steiner, CE; PintoJunior, W; Maciel, JA; Jain, S; Sack, G; Andermann, E; Sudarsky, L; Rosenberg, R; MacLeod, P; Chitayat, D; Babul, R; Sequeiros, J; Rouleau, GA-Artigo de periódico
2014Cognitive and behavioral heterogeneity in genetic syndromesPegoraro, LFL; Steiner, CE; Celeri, EHRV; Banzato, CEM; Dalgalarrondo, P-Artigo de periódico
2007Genotype and natural history in unrelated individuals with phenylketonuria and autistic behaviorSteiner, CE; Acosta, AX; Guerreiro, MM; Marques-De-Faria, AP-Artigo de periódico
2011Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type IBoy, R; Schwartz, IVD; Krug, BC; Santana-da-Silva, LC; Steiner, CE; Acosta, AX; Ribeiro, EM; Galera, MF; Leivas, PGC; Braz, M-Artigo de periódico
2013The Severity of Osteogenesis Imperfecta and Type I Collagen Pattern in Human Skin as Determined by Nonlinear Microscopy: Proof of Principle of a Diagnostic MethodAdur, J; DSouza-Li, L; Pedroni, MV; Steiner, CE; Pelegati, VB; de Thomaz, AA; Carvalho, HF; Cesar, CL-Artigo de periódico
2000Spondylocarpotarsal synostosis with ocular findingsSteiner, CE; Torriani, M; Norato, DYJ; Marques-de-Faria, AP-Artigo de periódico
2006Sjogren-Larsson syndrome in Brazil is caused by a common c.1108-1G -> C splice-site mutation in the ALDH3A2 geneAuada, MP; Puzzi, MB; Cintra, ML; Steiner, CE; Alexandrino, F; Sartorato, EL; Aguiar, TS; Azulay, RD; Carney, G; Rizzo, WB-Artigo de periódico
2008Type II Autosomal Recessive Cutis Laxa: Report of Another Patient and Molecular Studies Concerning Three Candidate GenesScherrer, DZ; Alexandrino, F; Cintra, ML; Sartorato, EL; Steiner, CE-Artigo de periódico
2004Brief report: Acrocallosal syndrome and autismSteiner, CE; Guerreiro, MM; Marques-de-Faria, AP-Artigo de periódico