检索结果 - Angela Maria Vianna‐Morgante

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  1. 1
    As variações do genoma e a diversidade humana

    As variações do genoma e a diversidade humana 由 Angela Maria Vianna‐Morgante, Carla Rosenberg

    出版 2007
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  2. 2
    Partial duplication of chromosome 20(pter->q12)

    Partial duplication of chromosome 20(pter->q12) 由 Valter Augusto Della-Rosa, Angela Maria Vianna‐Morgante

    出版 2000
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  3. 3
    Tetrasomy 18p: tentative delineation of a syndrome

    Tetrasomy 18p: tentative delineation of a syndrome 由 Denise Batista, Angela Maria Vianna‐Morgante, A. Richieri‐Costa

    出版 1983
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  4. 4
    Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population

    Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population 由 Leonardo Pires Capelli, Regina Célia Mingroni‐Netto, Angela Maria Vianna‐Morgante

    出版 2005
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  5. 5
    Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

    Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. 由 Mayana Zatz, Angela Maria Vianna‐Morgante, Patricia J. Campos, Aron J. Diament

    出版 1981
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  6. 6
    FRAXA premutation associated with premature ovarian failure

    FRAXA premutation associated with premature ovarian failure 由 Angela Maria Vianna‐Morgante, Silvia Souza da Costa, Albert Parés, Ieda T. N. Verreschi

    出版 1996
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  7. 7
    Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.

    Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. 由 Angela Maria Vianna‐Morgante, Masumi Nozaki, Cláudio C. Ortega, Vivian Coates, Y. Yamamura

    出版 1976
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  8. 8
    Experience with molecular and cytogenetic diagnosis of fragile X syndrome in Brazilian families

    Experience with molecular and cytogenetic diagnosis of fragile X syndrome in Brazilian families 由 Regina Célia Mingroni‐Netto, Rita C.M. Pavanello, Paulo Alberto Otto, Angela Maria Vianna‐Morgante

    出版 1997
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  9. 9
    The FMR1 premutation as a cause of premature ovarian failure in Brazilian women

    The FMR1 premutation as a cause of premature ovarian failure in Brazilian women 由 Silvia Souza da Costa, Ângela Maggio da Fonseca, Vicente Renato Bagnoli, Angela Maria Vianna‐Morgante

    出版 2006
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  10. 10
    FRAXF in a patient with chromosome 8 duplication.

    FRAXF in a patient with chromosome 8 duplication. 由 Angela Maria Vianna‐Morgante, Regina Célia Mingroni‐Netto, Anne C. Barbosa, Paulo Alberto Otto, Carla Rosenberg

    出版 1996
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  11. 11
    UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome

    UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome 由 Rafaella M.P. Nascimento, Paulo Alberto Otto, Arjan P.M. de Brouwer, Angela Maria Vianna‐Morgante

    出版 2006
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  12. 12
    Simple, Rapid and Inexpensive Quantitative Fluorescent PCR Method for Detection of Microdeletion and Microduplication Syndromes

    Simple, Rapid and Inexpensive Quantitative Fluorescent PCR Method for Detection of Microdeletion and Microduplication Syndromes 由 Martin Stofanko, Higgor Gonçalves‐Dornelas, Pricila S. Cunha, Heloísa B. Pena, Angela Maria Vianna‐Morgante, Sérgio Danilo Junho Pena

    出版 2013
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  13. 13
    Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family.

    Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family. 由 Ruth Blay Levisky, Angela Maria Vianna‐Morgante, Oswaldo Frota‐Pessoa, Milberto Scaff, Ana-Maria Tsanaclis, J A Levy

    出版 1977
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  14. 14
    The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

    The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspla... 由 Ana Carolina Fonseca, Adriano Bonaldi, Débora Romeo Bertola, Chong Ae Kim, Paulo Alberto Otto, Angela Maria Vianna‐Morgante

    出版 2013
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  15. 15
    The fragile x-associated tremor and ataxia syndrome (FXTAS)

    The fragile x-associated tremor and ataxia syndrome (FXTAS) 由 Leonardo Pires Capelli, Márcia Rúbia Rodrigues Gonçalves, Cláudia C. Leite, Egberto Reis Barbosa, Ricardo Nitríni, Angela Maria Vianna‐Morgante

    出版 2010
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  16. 16
    Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B

    Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B 由 Ana Cristina Victorino Krepischi, Jorge David Aivazoglou Carneiro, Marta Svartman, Israel Bendit, Vicente Odone Filho, Angela Maria Vianna‐Morgante

    出版 2001
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  17. 17
    Premature ovarian failure (POF) in Brazilian fragile X carriers

    Premature ovarian failure (POF) in Brazilian fragile X carriers 由 Angela Maria Vianna‐Morgante, Silvia Souza da Costa, Rita de Cássia M. Pavanello, Paulo Alberto Otto, Regina Célia Mingroni‐Netto

    出版 1999
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  18. 18
    Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

    Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes 由 Juliana F. Mazzeu, Ana Cristina Victorino Krepischi, Carla Rosenberg, Charles Marques Lourenço, Karina Lezirovitz, Károly Szuhai, Lúcia Martelli, Angela Maria Vianna‐Morgante

    出版 2007
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  19. 19
    The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

    The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation 由 Ana Carolina Fonseca, Adriano Bonaldi, Simone Aparecida Siqueira Fonseca, Paulo Alberto Otto, Fernando Kok, Mads Bak, Niels Tommerup, Angela Maria Vianna‐Morgante

    出版 2015
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  20. 20
    Dementia in Fragile X-associated Tremor/Ataxia Syndrome

    Dementia in Fragile X-associated Tremor/Ataxia Syndrome 由 Ricardo Nitríni, Márcia Rúbia Rodrigues Gonçalves, Leonardo Pires Capelli, Egberto Reis Barbosa, Cláudia Sellitto Porto, Edson Amaro, Paulo Alberto Otto, Angela Maria Vianna‐Morgante

    出版 2010
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