检索结果 - Luiz Gustavo Dufner‐Almeida

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  1. 1
    Stem-cell therapy for hearing loss: are we there yet?

    Stem-cell therapy for hearing loss: are we there yet? 由 Luiz Gustavo Dufner‐Almeida, Dayane Bernardino da Cruz, Regina Célia Mingroni‐Netto, Ana Carla Batissoco, Jeanne Oiticica, Rodrigo Salazar‐Silva

    出版 2019
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  2. 2
    Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil

    Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil 由 Laís Faria Masulk Cardozo, Mariana Richartz Schwind, Ana Paula Almeida de Pereira, Luiz Gustavo Dufner‐Almeida, Luciana A. Haddad, Isac Bruck, Sérgio Antônio Antoniuk

    出版 2024
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  3. 3
    Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings

    Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings 由 Luiz Gustavo Dufner‐Almeida, Santoesha Nanhoe, Andrea Zonta, Mitra Hosseinzadeh, Regina Kom‐Gortat, Peter Elfferich, Gerben Schaaf, Annegien Kenter, Daniel Kümmel, Nicola Migone, Sue Povey, Rosemary Ekong, Mark Nellist

    出版 2019
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  4. 4
    A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC)

    A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) 由 Beatriz Azevedo Nunes, A Romano, Mariana Aparecida Pasa Morgan, Alice Andrade Gonçalves, Laís Faria Masulk Cardozo, Luiz Gustavo Dufner‐Almeida, Luciana A. Haddad, Ana Chrystina de Souza Crippa, Sérgio Antônio Antoniuk, Kerstin Taniguchi Abagge

    出版 2024
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  5. 5
    HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad’s myChoice®, SOPHiA GENETICS® SOPHiA Homologous Recombination Solution and AmoyDx® HRD Focus Panel

    HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad’s myChoice®, SOPHiA GENETICS® SOPHiA Homologous Recombination Solution and AmoyDx® HRD Focus Pane... 由 Rodrigo Guarischi‐Sousa, José Eduardo Kroll, Adriano Bonaldi, Paulo Marques Pierry, Luiz Gustavo Dufner‐Almeida, Camila Alves Souza, Juliana Santos Silva, Darine Villela, Fabiana Meliso, Maria Fernanda Grillo Milanezi, Cristovam Scapulatempo‐Neto, Guilherme Lopes Yamamoto

    出版 2023
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  6. 6
    Unilateral giant renal angiomyolipoma and pulmonar lymphangioleiomyomatosis

    Unilateral giant renal angiomyolipoma and pulmonar lymphangioleiomyomatosis 由 Fernando Peixoto Ferraz de Campos, Cristiane Rúbia Ferreira, Angélica Bráz Simões, Paulo Sérgio Martins de Alcântara, Brenda Margatho Matines, Adriano Ferreira da Silva, Deborah Azzi‐Nogueira, Luiz Roberto Giorgetti de Britto, Luiz Gustavo Dufner‐Almeida, Luciana A. Haddad

    出版 2013
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  7. 7
    Unilateral giant renal angiomyolipoma and pulmonary lymphangioleiomyomatosis

    Unilateral giant renal angiomyolipoma and pulmonary lymphangioleiomyomatosis 由 Fernando Peixoto Ferraz de Campos, Cristiane Rúbia Ferreira, Angélica Bráz Simões, Paulo Sérgio Martins de Alcântara, Brenda Margatho Ramos Martines, Adriano Ferreira da Silva, Deborah Azzi‐Nogueira, Luiz Roberto Giorgetti de Britto, Luiz Gustavo Dufner‐Almeida, Luciana A. Haddad

    出版 2013
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  8. 8
    Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting

    Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting 由 Patricia C. Mazzonetto, Darine Villela, Silvia Souza da Costa, Ana Cristina Victorino Krepischi, Fernanda Milanezi, Michele Patricia Migliavacca, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Camila Alves de Souza, José Eduardo Kroll, Marcelo G. Paula, Rodrigo Guarischi‐Sousa, Cristovam Scapulatempo‐Neto, Carla Rosenberg

    出版 2023
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  9. 9
    Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting

    Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting 由 Patricia C. Mazzonetto, Darine Villela, Silvia Souza da Costa, Ana C. V. Krepischi, Fernanda Milanezi, Michele Patricia Migliavacca, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Camila Alves Souza, José Eduardo Kroll, Marcelo G. Paula, Rodrigo Guarischi‐Sousa, Cristovam Scapulatempo‐Neto, Carla Rosenberg

    出版 2023
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  10. 10
    Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex

    Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex 由 Luiz Gustavo Dufner‐Almeida, Laís Faria Masulk Cardozo, Mariana Richartz Schwind, Danielly Carvalho, Juliana Paula Gomes de Almeida, Andréa Maria Cappellano, Thiago Gerônimo Pires Alegria, Santoesha Nanhoe, Mark Nellist, Maria Rita Passos‐Bueno, Silvana Chiavegatto, Nasjla S Silva, Sérgio Rosemberg, Ana Paula Aparecida Pereira, Sérgio Antônio Antoniuk, Luciana A. Haddad

    出版 2024
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  11. 11
    Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries

    Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries 由 Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela Caldas Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg

    出版 2023
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  12. 12
    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries 由 Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela de Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg

    出版 2024
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