Search Results - Deconte, Desireé

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  1. 1
    Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review

    Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review by Glaeser, Andressa Barreto, Santos, Andressa Schneiders, Diniz, Bruna Lixinski, Deconte, Desireé, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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  2. 2
    Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome

    Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome by Deconte, Desirée, Diniz, Bruna Lixinski, Hartmann, Jéssica K, de Souza, Mateus A, Zottis, Laira F F, Zen, Paulo Ricardo Gazzola, Rosa, Rafael F M, Fiegenbaum, Marilu

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  3. 3
    Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

    Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2 by Deconte, Desirée, Kreusch, Tulia Cristina, Salvaro, Bruna Pavan, Perin, Wagner Fernando, Ferreira, Maria Angélica Tosi, Kopacek, Cristiane, da Rosa, Ernani Bohrer, Heringer, Jane Iândora, Ligabue-Braun, Rodrigo, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado, Fiegenbaum, Marilu

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  4. 4
    Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis

    Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis by Diniz, Bruna Lixinski, Deconte, Desirée, Gadelha, Kerolainy Alves, Glaeser, Andressa Barreto, Guaraná, Bruna Baierle, de Moura, Andreza Ávila, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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  5. 5
    Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

    Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review by Carlotto, Bianca Soares, Deconte, Desirée, Diniz, Bruna Lixinski, Silva, Priscila Ramires da, Zen, Paulo Ricardo Gazzola, Silva, André Anjos da

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  6. 6
    Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

    Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebra... by Glaeser, Andressa Barreto, Diniz, Bruna Lixinski, Deconte, Desirée, Santos, Andressa Schneiders, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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  7. 7
    Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case

    Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case by Diniz, Bruna Lixinski, Glaeser, Andressa Barreto, Deconte, Desirée, Guaraná, Bruna Baierle, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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  8. 8
    Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

    Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism by Deconte, Desirée, Correia, Elisa Pacheco Estima, Haubert, Géssica, de Souza, Vinicius, Correia, Jamile Dutra, Maahs, Marcia Angelica Peter, Zen, Paulo Ricardo Gazzola, Fiegenbaum, Marilu, Rosa, Rafael Fabiano Machado

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  9. 9
    Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function

    Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function by Deconte, Desirée, dos Santos, Catarine Benta Lopes, de Morais, Camila Ohomoto, Yonamine, Tatiane Mayumi, Nogueira, Letícia Thaís, Ferreira, Maria Angélica Tosi, Franceschi, Vinícius Bonetti, Longhi, André Luís Soares, Villacis, Rolando André Rios, Rogatto, Silvia Regina, Ligabue-Braun, Rodrigo, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado, Fiegenbaum, Marilu

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  10. 10
    Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case

    Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case by Diniz, Bruna Lixinski, Glaeser, Andressa Barreto, Deconte, Desirée, Guaraná, Bruna Baierle, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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  11. 11
    Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

    Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism by Deconte, Desirée, Correia, Elisa Pacheco Estima, Haubert, Géssica, de Souza, Vinicius, Correia, Jamile Dutra, Maahs, Marcia Angelica Peter, Zen, Paulo Ricardo Gazzola, Fiegenbaum, Marilu, Rosa, Rafael Fabiano Machado

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  12. 12
    Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

    Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2 by Deconte, Desirée, Kreusch, Tulia Cristina, Salvaro, Bruna Pavan, Perin, Wagner Fernando, Ferreira, Maria Angélica Tosi, Kopacek, Cristiane, da Rosa, Ernani Bohrer, Heringer, Jane Iândora, Ligabue-Braun, Rodrigo, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado, Fiegenbaum, Marilu

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