Hasil Pencarian - Mariluce Riegel

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  1. 1
    Human molecular cytogenetics: from cells to nucleotides

    Human molecular cytogenetics: from cells to nucleotides oleh Mariluce Riegel

    Diterbitkan 2014-01-01
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  2. 2
    Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2

    Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2 oleh Thiago Corrêa, Fabiano Poswar, Bruno César Feltes, Mariluce Riegel, Mariluce Riegel

    Diterbitkan 2020-06-01
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  3. 3
    Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome

    Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome oleh Thiago Corrêa, Bruno César Feltes, Mariluce Riegel

    Diterbitkan 2019-04-01
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  4. 4
    Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

    Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome oleh Cristian Petter, Lilia Maria Azevedo Moreira, Mariluce Riegel

    Diterbitkan 2019-01-01
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  5. 5
    Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

    Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20 oleh Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, Mariluce Riegel

    Diterbitkan 2020-01-01
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  6. 6
    Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

    Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances oleh Luiza Emy Dorfman, Júlio César L. Leite, Roberto Giugliani, Mariluce Riegel

    Diterbitkan 2015-01-01
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  7. 7
    Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

    Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances oleh Luiza Emy Dorfman, Júlio César L. Leite, Roberto Giugliani, Mariluce Riegel

    Diterbitkan 2015-02-01
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  8. 8
    Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

    Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory oleh Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, Mariluce Riegel, Maira Burin

    Diterbitkan 2017-03-01
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  9. 9
    Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

    Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances oleh Luiza Emy Dorfman, Júlio César L. Leite, Roberto Giugliani, Mariluce Riegel

    Diterbitkan 2015-01-01
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  10. 10
    Diabetes insipidus como manifestação inicial de leucemia mieloide aguda em paciente com monossomia do cromossomo 7

    Diabetes insipidus como manifestação inicial de leucemia mieloide aguda em paciente com monossomia do cromossomo 7 oleh Amanda Dias Lima Morais, Adriana Muradás Girardi, Mariluce Riegel, Alini Vargas, Tatiana Helena Rech

    Diterbitkan 2017-04-01
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  11. 11
    Diabetes insipidus como manifestação inicial de leucemia mieloide aguda em paciente com monossomia do cromossomo 7

    Diabetes insipidus como manifestação inicial de leucemia mieloide aguda em paciente com monossomia do cromossomo 7 oleh Amanda Dias Lima Morais, Adriana Muradás Girardi, Mariluce Riegel, Alini Vargas, Tatiana Helena Rech

    Diterbitkan 2017-04-01
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  12. 12
    TRISSOMIA DE PARTE DO BRAÇO LONGO DO CROMOSSOMO 6 COM INSERÇÃO EM 14Q EM PACIENTE COM RETARDO MENTAL LEVE E DISMORFIAS

    TRISSOMIA DE PARTE DO BRAÇO LONGO DO CROMOSSOMO 6 COM INSERÇÃO EM 14Q EM PACIENTE COM RETARDO MENTAL LEVE E DISMORFIAS oleh Sharbel W. Maluf, Ricardo Pires, Gisele B. Trombetta, Luiza Dorfman, Verônica Contini, Luís Arruda, Mariluce Riegel

    Diterbitkan 2022-07-01
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  13. 13
    A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity

    A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity oleh Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz

    Diterbitkan 2012-01-01
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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... oleh Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal

    Diterbitkan 2016-08-01
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  15. 15
    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... oleh Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal

    Diterbitkan 2016-08-01
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  16. 16
    Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil

    Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil oleh Mariluce Riegel, Nathália Barcellos, Rafaella Mergener, Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Lilia Maria Azevedo Moreira, Roberto Giugliani

    Diterbitkan 2014-11-01
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  17. 17
    Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil

    Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil oleh Mariluce Riegel, Nathália Barcellos, Rafaella Mergener, Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Lilia Maria Azevedo Moreira, Roberto Giugliani

    Diterbitkan 2014-11-01
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  18. 18
    HEMOPHAGOCYTOSIS BY BLASTS IN A CHILD WITH ACUTE MONOCYTIC LEUKEMIA AFTER CHEMOTHERAPY

    HEMOPHAGOCYTOSIS BY BLASTS IN A CHILD WITH ACUTE MONOCYTIC LEUKEMIA AFTER CHEMOTHERAPY oleh Mariela Granero Farias, Priscila Aparecida Correa Freitas, Fabiane Spagnol, Meriene Viquetti de Souza, Ana Paula Alegretti, Mariluce Riegel, Adriano Nori Rodrigues Taniguchi, Liane Esteves Daudt

    Diterbitkan 2020-07-01
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  19. 19
    Avaliação da instabilidade genômica e prevenção de câncer

    Avaliação da instabilidade genômica e prevenção de câncer oleh Sharbel W. Maluf, Mariluce Riegel, Silvio L.W. Almeida Jr, Janaína P. Jaeger, Ana P.B. Souza, Valcinete F. Santana, Luiza E. Dorfman, Gisele B. Trombetta, Alexandre Bacelar, Bernardo Erdtmann

    Diterbitkan 2022-07-01
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  20. 20
    Clinical findings in Brazilian patients with adult GM1 gangliosidosis

    Clinical findings in Brazilian patients with adult GM1 gangliosidosis oleh Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura deSouza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani

    Diterbitkan 2019-09-01
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