检索结果 - Jorge Sequeiros

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  1. 1
    Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

    Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias 由 Jorge Sequeiros, Sara Seneca, Joanne Martindale

    出版 2010
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  2. 2
    How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

    How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence 由 Álvaro Mendes, Milena Paneque, Liliana Sousa, Angus Clarke, Jorge Sequeiros

    出版 2015
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  3. 3
    Professor Paula Coutinho (1941-2022)

    Professor Paula Coutinho (1941-2022) 由 Hélio Afonso Ghizoni Teive, Léo Coutinho, Joaquim J. Ferreira, Jorge Sequeiros

    出版 2022
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  4. 4
    Communication of Information about Genetic Risks: Putting Families at the Center

    Communication of Information about Genetic Risks: Putting Families at the Center 由 Álvaro Mendes, Alison Metcalfe, Milena Paneque, Liliana Sousa, Angus Clarke, Jorge Sequeiros

    出版 2017
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  5. 5
    What is ideal genetic counselling? A survey of current international guidelines

    What is ideal genetic counselling? A survey of current international guidelines 由 Elina Rantanen, Marja Hietala, Ulf Kristoffersson, Irmgard Nippert, Jörg Schmidtke, Jorge Sequeiros, Helena Kääriäinen

    出版 2008
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  6. 6
    Machado‐Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population

    Machado‐Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population 由 Priscilla R. Prestes, Maria Luiza Saraiva Pereira, Isabel Silveira, Jorge Sequeiros, Laura Bannach Jardim

    出版 2007
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  7. 7
    Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique CACNA1A Missense Mutation in Patients From a Large Family

    Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique CACNA1A Missense Mutation in Patients From a Large Family 由 Isabel Alonso, José Barros, Assunção Tuna, João Coelho, Jorge Sequeiros, Isabel Silveira, Paula Coutinho

    出版 2003
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  8. 8
    [NO TITLE AVAILABLE]

    [NO TITLE AVAILABLE] 由 Lavínia Schüler‐Faccini, Claudio Osorio, Flavia Romariz, Milena Paneque, Jorge Sequeiros, Laura Bannach Jardim

    出版 2014
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  9. 9
    Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

    Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds 由 Laura Bannach Jardim, Maria Luiza Saraiva Pereira, Isabel Silveira, Anabela Ferro, Jorge Sequeiros, Roberto Giugliani

    出版 2001
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  10. 10
    Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

    Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil 由 Patrícia Ashton‐Prolla, José Roberto Goldim, Filippo Pinto e Vairo, Úrsula da Silveira Matte, Jorge Sequeiros

    出版 2015
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  11. 11
    Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

    Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease 由 Bruno Carniatto Marques Garcia, Francisco Manoel Branco Germiniani, Paula Marques, Jorge Sequeiros, Hélio Afonso Ghizoni Teive

    出版 2017
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  12. 12
    Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

    Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil 由 Patrícia Ashton‐Prolla, José Roberto Goldim, Filippo Pinto e Vairo, Úrsula da Silveira Matte, Jorge Sequeiros

    出版 2015
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  13. 13
    Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

    Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) 由 Diana Santos, Teresa Coelho, Miguel Alves‐Ferreira, Jorge Sequeiros, Denisa Mendonça, Isabel Alonso, Carolina Lemos, Alda Sousa

    出版 2015
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  14. 14
    The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M

    The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M 由 Diana Santos, Teresa Coelho, Miguel Alves‐Ferreira, Jorge Sequeiros, Isabel Alonso, Manuela Grazina, Alda Sousa, Carolina Lemos

    出版 2015
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  15. 15
    Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms

    Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms 由 João Moura, Jorge Oliveira, Mariana Santos, Sara Costa, Lénia Silva, Carolina Lemos, José Barros, Jorge Sequeiros, Joana Damásio

    出版 2024
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    Pré-impressão
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  16. 16
    Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype

    Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype 由 Laura Bannach Jardim, Isabel Silveira, Maria Luiza Saraiva Pereira, M. Do Céu Moreira, Pedro Mendonça, Jorge Sequeiros, Roberto Giugliani

    出版 2003
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  17. 17
    Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

    Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4 由 José Brás, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro

    出版 2015
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  18. 18
    mtDNA copy number associated with age of onset in familial amyloid polyneuropathy

    mtDNA copy number associated with age of onset in familial amyloid polyneuropathy 由 Diana Santos, Maria João Santos, Miguel Alves‐Ferreira, Teresa Coelho, Jorge Sequeiros, Isabel Alonso, Pedro Oliveira, Alda Sousa, Carolina Lemos, Manuela Grazina

    出版 2017
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  19. 19
    Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

    Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias 由 Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Carneiro Ribeiro, José L. Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso, Giovanni Stévanin

    出版 2017
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  20. 20
    Frataxin knockin mouse

    Frataxin knockin mouse 由 Carlos J. Miranda, Miguel M. Santos, Keiichi Ohshima, Julie Smith, Liangtao Li, Michaeline Bunting, Mireille Cossée, Michael L. Koenig, Jorge Sequeiros, Jerry Kaplan, Massimo Pandolfo

    出版 2002
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