Browsing by Subject Dna Mutational Analysis

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PreviewIssue DateTitleAuthor(s)AdvisorType
2004Mutation Screening In A Cohort Of Patients With Lissencephaly And Subcortical Band Heterotopia.Torres, F R; Montenegro, M A; Marques-De-Faria, A P; Guerreiro, M M; Cendes, F; Lopes-Cendes, I-Artigo de periódico
2004Clinical Findings In Four Brazilian Families Affected By Saethre-chotzen Syndrome Without Twist Mutations.Nascimento, Sandra R D; de Mello, Maricilda P; Batista, Juliano C; Balarin, Marly A S; Lopes, Vera L Gil da Silva-Artigo de periódico
2011Mutations For Leber Hereditary Optic Neuropathy In Patients With Alcohol And Tobacco Optic Neuropathy.Amaral-Fernandes, Marcela Scabello; Marcondes, Ana Maria; Miranda, Paulo Maurício do Amor Divino; Maciel-Guerra, Andréa Trevas; Sartorato, Edi Lúcia-Artigo de periódico
2007Three Novel Mutations In The Activin Receptor-like Kinase 1 (alk-1) Gene In Hereditary Hemorrhagic Telangiectasia Type 2 In Brazilian Patients.Assis, A M; Costa, F F; Arruda, V R; Annichino-Bizzacchi, J M; Bertuzzo, C S-Artigo de periódico
2011Serologic And Molecular Characterization Of D Variants In Brazilians: Impact For Typing And Transfusion Strategy.Credidio, Débora Castilho; Pellegrino, Jordão; Castilho, Lilian-Artigo de periódico
2001Antithrombin Deficiency In Brazilian Patients With Venous Thrombosis: Molecular Characterization Of A Single Splice Site Mutation, An Insertion And A De Novo Point Mutation.Arnaldi, L A; Pretti, F A; Zampieri, J P; Ramos, C F; Arruda, V R; Annichino-Bizzacchi, J M-Artigo de periódico
2011Searching For Digenic Inheritance In Deaf Brazilian Individuals Using The Multiplex Ligation-dependent Probe Amplification Technique.da Silva-Costa, Sueli M; Martins, Fábio Tadeu Arrojo; Pereira, Tânia; Pomilio, Mariza C A; Marques-de-Faria, Antonia Paula; Sartorato, Edi Lúcia-Artigo de periódico
2011Novel Human Crygd Rare Variant In A Brazilian Family With Congenital Cataract.de Figueirêdo, Eugênio Santana; Giordano, Gabriel Gorgone; Tavares, Anderson; da Silva, Márcio José; de Vasconcellos, José Paulo Cabral; Arieta, Carlos Eduardo Leite; de Melo, Mônica Barbosa-Artigo de periódico
2002Molecular Identification Of Sicilian (deltabeta) Degrees-thalassemia Associated With Beta-thalassemia And Hemoglobin S In Brazil.de Andrade, T G; Fattori, A; Saad, S T O; Sonati, M F; Costa, F F-Artigo de periódico
2002Mutations In The P53 Gene In Acute Myeloid Leukemia Patients Correlate With Poor Prognosis.Melo, Mônica B; Ahmad, Nilofer N; Lima, Carmen S P; Pagnano, Katia B B; Bordin, Silvana; Lorand-Metze, Irene; SaAd, Sara T O; Costa, Fernando F-Artigo de periódico
2004Frequency Of The 35delg Mutation In The Gjb2 Gene In Samples Of European, Asian, And African Brazilians.Oliveira, C A; Alexandrino, F; Abe-Sandes, K; Silva, W A; Maciel-Guerra, A T; Magna, L A; Sartorato, E L-Artigo de periódico
2004Weakened Expression Of 'e' Owing To Concomitant Occurrence Of Cys16 And Val245 (vs Antigen).Rodrigues, A; Rios, M; Costa, F F; Saad, S T O; Pellegrino, J; Castilho, L-Artigo de periódico
2005Prevalence Of Katg Ser315 Substitution And Rpob Mutations In Isoniazid-resistant Mycobacterium Tuberculosis Isolates From Brazil.Höfling, C C; Pavan, E M; Giampaglia, C M S; Ferrazoli, L; Aily, D C G; de Albuquerque, D M; Ramos, M C-Artigo de periódico
2007Molecular Genetics Study Of Deafness In Brazil: 8-year Experience.de Oliveira, Camila Andréa; Alexandrino, Fabiana; Christiani, Thalita Vitachi; Steiner, Carlos Eduardo; Cunha, José Luiz Rosemberis; Guerra, Andréa Trevas Maciel; Sartorato, Edi Lúcia-Artigo de periódico
2009Study Of Modifiers Factors Associated To Mitochondrial Mutations In Individuals With Hearing Impairment.de Moraes, Vanessa Cristine Sousa; Alexandrino, Fabiana; Andrade, Paula Baloni; Câmara, Marília Fontenele; Sartorato, Edi Lúcia-Artigo de periódico
2009Connexin Mutations In Brazilian Patients With Skin Disorders With Or Without Hearing Loss.Alexandrino, Fabiana; de Oliveira, Camila Andréa; Magalhães, Renata F; Florence, Michelle E B; de Souza, Elemir M; Sartorato, Edi Lúcia-Artigo de periódico
2006Spinocerebellar Ataxia Types 2 And 3 Segregating Simultaneously In A Single Family.França, Marcondes C; Calcagnotto, Maria E; da Costa, Jaderson C; Lopes-Cendes, Iscia-Artigo de periódico
2007Molecular Study In Brazilian Cochlear Implant Recipients.Christiani, Thalita Vitachi; Alexandrino, Fabiana; de Oliveira, Camila Andréa; Amantini, Regina Célia Bortoleto; Bevilacqua, Maria Cecília; Filho, Orozimbo Alves Costa; Porto, Paulo; Sartorato, Edi Lúcia-Artigo de periódico
2014Cftr Genotype And Clinical Outcomes Of Adult Patients Carried As Cystic Fibrosis Disease.Bonadia, Luciana Cardoso; de Lima Marson, Fernando Augusto; Ribeiro, Jose Dirceu; Paschoal, Ilma Aparecida; Pereira, Monica Corso; Ribeiro, Antonio Fernando; Bertuzzo, Carmen Silvia-Artigo de periódico
1996Rapid Detection Of Factor V Leiden (fvq506) By Non-radioactive Single Strand Conformation Polymorphism (sscp).Arruda, V R; von Zuben, P M; Annichino-Bizzachi, J M; Costa, F F-Artigo de periódico