Showing 1 - 20 results of 31 for search 'S Leistner-Segal', query time: 0.05s Refine Results
  1. 1
    Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?

    Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles? by Diana Rojas Malaga, Sandra Leistner-Segal, Ana Carolina Brusius-Facchin

    Published 2019-05-01
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  2. 2
    INVESTIGAÇÃO DO MICRO-RNA 122 COMO POTENCIAL BIOMARCADOR DE PROGNÓSTICO NA HEMOCROMATOSE HEREDITÁRIA

    INVESTIGAÇÃO DO MICRO-RNA 122 COMO POTENCIAL BIOMARCADOR DE PROGNÓSTICO NA HEMOCROMATOSE HEREDITÁRIA by N Kersting, FP Athayde, L Sekine, TGH Onsten, SC Wagner, S Leistner-Segal

    Published 2021-10-01
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  3. 3
    Detection of human bocavirus and human metapneumovirus by real-time PCR from patients with respiratory symptoms in Southern Brazil

    Detection of human bocavirus and human metapneumovirus by real-time PCR from patients with respiratory symptoms in Southern Brazil by Diogo André Pilger, Vlademir Vicente Cantarelli, Sérgio Luis Amantea, Sandra Leistner-Segal

    Published 2011-02-01
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  4. 4
    Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis

    Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis by Manfro Gisele G, Leistner-Segal Sandra, Lima Maurício S, Salum Giovanni A, Blaya Carolina

    Published 2007-08-01
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  5. 5
    Emerging research groups studying Brazilian psychiatric genetics Grupos de pesquisa emergentes em estudos de genética psiquiátrica brasileira

    Emerging research groups studying Brazilian psychiatric genetics Grupos de pesquisa emergentes em estudos de genética psiquiátrica brasileira by Giovanni Abrahão Salum, Carolina Blaya, Gisele Gus Manfro, Jair Segal, Sandra Leistner-Segal

    Published 2010-03-01
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  6. 6
    Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil

    Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil by Jéssica Dick, Sandra Leistner-Segal, Filippo Pinto Vairo, Roberto Giugliani, Ida Vanessa Doederlein Schwartz

    Published 2016-05-01
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  7. 7
    Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil

    Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil by Jéssica Dick, Sandra Leistner-Segal, Filippo Pinto Vairo, Roberto Giugliani, Ida Vanessa Doederlein Schwartz

    Published 2016-05-01
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  8. 8
    Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

    Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital by Rejane G. Kessler, Maria Teresa V. Sanseverino, Sandra Leistner-Segal, José A.A. Magalhães, Roberto Giugliani

    Published 2008-12-01
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  9. 9
    What can HPA axis-linked genes tell us about anxiety disorders in adolescents?

    What can HPA axis-linked genes tell us about anxiety disorders in adolescents? by Andressa Bortoluzzi, Carolina Blaya, Eduarda Dias da Rosa, Mariana Paim, Virgínia Rosa, Sandra Leistner-Segal, Gisele Gus Manfro

    Published 2015-12-01
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  10. 10
    Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

    Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report by Erlane Marques Ribeiro, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Carlos Antônio Bruno da Silva, Ida Vanessa Schwartz

    Published 2014-01-01
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  11. 11
    Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

    Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II by Sandra Leistner-Segal, Ana Carolina Brusius-Facchin, Rejane Gus, Maira Burin, Maria Teresa Sanseverino, José Antônio Magalhães, Roberto Giugliani

    Published 2014-11-01
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  12. 12
    A HIPERFERRITINEMIA E A HEMOCROMATOSE AO OLHAR DE QUEM DIAGNOSTICA E DE QUEM É TRATADO: PODEMOS MELHORAR?

    A HIPERFERRITINEMIA E A HEMOCROMATOSE AO OLHAR DE QUEM DIAGNOSTICA E DE QUEM É TRATADO: PODEMOS MELHORAR? by N Kersting, FM Carlotto, MM Pinheiro, AL Barp, FP Athayde, L Sekine, TGH Onsten, S Leistner-Segal, L Siqueira, CR Araújo

    Published 2021-10-01
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  13. 13
    Análise comparativa entre as metodologias de PCR metilação-específica (MSP), Southern blot (SB) e FISH utilizadas no diagnóstico genético molecular de pacientes com suspeita clínica das síndromes de Prader-Willi ou Angelman

    Análise comparativa entre as metodologias de PCR metilação-específica (MSP), Southern blot (SB) e FISH utilizadas no diagnóstico genético molecular de pacientes com suspeita clínic... by Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal

    Published 2016-08-01
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  14. 14
    Análise comparativa entre as metodologias de PCR metilação-específica (MSP), Southern blot (SB) e FISH utilizadas no diagnóstico genético molecular de pacientes com suspeita clínica das síndromes de Prader-Willi ou Angelman

    Análise comparativa entre as metodologias de PCR metilação-específica (MSP), Southern blot (SB) e FISH utilizadas no diagnóstico genético molecular de pacientes com suspeita clínic... by Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal

    Published 2016-08-01
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  15. 15
    Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

    Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil by Crisle Vignol Dillenburg, Isabel Cristina Bandeira, Taiana Valente Tubino, Luciana Grazziotin Rossato, Eleonora Souza Dias, Ana Cristina Bittelbrunn, Sandra Leistner-Segal

    Published 2012-01-01
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  16. 16
    ANÁLISE IN VITRO DO DANO AO DNA EM PACIENTES COM DIAGNÓSTICO OU SUSPEITA DE HEMOCROMATOSE HEREDITÁRIA E CORRELAÇÕES COM DESFECHOS CLÍNICOS

    ANÁLISE IN VITRO DO DANO AO DNA EM PACIENTES COM DIAGNÓSTICO OU SUSPEITA DE HEMOCROMATOSE HEREDITÁRIA E CORRELAÇÕES COM DESFECHOS CLÍNICOS by J.C. Fontana, V. Kirjner, F. Carlotto, N. Kersting, B.A. Machado, L. Sekine, C.R. Araújo, T. Onsten, A.S. Leistner-Segal

    Published 2020-11-01
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  17. 17
    Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

    Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart by Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal

    Published 2019-04-01
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  18. 18
    Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian Patients With Temporal Lobe Epilepsy Presenting or Not Psychiatric Comorbidities

    Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian Patients With Temporal Lobe Epilepsy Presenting or Not Psychiatric Comorbidities by Isabel Cristina Bandeira, Isabel Cristina Bandeira, Lucas Giombelli, Isabel Cristina Werlang, Isabel Cristina Werlang, Ana Lucia Abujamra, Thais Leite Secchi, Rosane Brondani, Rosane Brondani, José Augusto Bragatti, Jorge Wladimir Junqueira Bizzi, Sandra Leistner-Segal, Sandra Leistner-Segal, Marino Muxfeldt Bianchin, Marino Muxfeldt Bianchin, Marino Muxfeldt Bianchin, Marino Muxfeldt Bianchin

    Published 2021-11-01
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  19. 19
    Diagnosis of Mucopolysaccharidoses

    Diagnosis of Mucopolysaccharidoses by Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Maira Graeff Burin, Diana Rojas-Málaga, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Roberto Giugliani

    Published 2020-03-01
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  20. 20
    Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil

    Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil by Jéssica Dick-Guareschi, Juliana Cristine Fontana, Maria Teresa Vieira Sanseverino, Francyne Kubaski, Leo Sekine, Nanci Félix Mesquita, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal

    Published 2022-07-01
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