Suchergebnisse - Caio Robledo D’Angioli Costa Quaio

Treffer weiter einschränken
  1. 1
    Achados moleculares das doenças raras

    Achados moleculares das doenças raras von Caio Robledo D'Angioli Costa Quaio

    Veröffentlicht 2023
    Volltext Volltext
    Tese/Dissertação
    Zu den Favoriten
    Gespeichert in:
  2. 2
    Estudo comparativo entre a síndrome antifosfolípide primária e a secundária: características clínico-laboratoriais em 149 pacientes

    Estudo comparativo entre a síndrome antifosfolípide primária e a secundária: características clínico-laboratoriais em 149 pacientes von Caio Robledo D’Angioli Costa Quaio, Paulo Eduardo Daruge Grando, Jozélio Freire de Carvalho

    Veröffentlicht 2008
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  3. 3
    Manchas hipomelanocíticas associadas à epilepsia: alerta ao diagnóstico de esclerose tuberosa

    Manchas hipomelanocíticas associadas à epilepsia: alerta ao diagnóstico de esclerose tuberosa von Mariana Calesso Moreira, Caio Robledo D’Angioli Costa Quaio, Israel Gomy, Débora Romeo Bertola, Chong Ae Kim

    Veröffentlicht 2012
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  4. 4
    Case Report Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

    Case Report Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation von Caio Robledo D’Angioli Costa Quaio, Yoshiro Koda, Débora Romeo Bertola, Maja Sukalo, Martin Zenker, Chong Ae Kim

    Veröffentlicht 2014
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  5. 5
    EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL

    EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL von Marcia Wehba Esteves Cavichio, Caio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Patrícia Oliveira, Soraia Tahan

    Veröffentlicht 2024
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  6. 6
    A Possible Role of Different PTPN Genes in Immune Regulation

    A Possible Role of Different PTPN Genes in Immune Regulation von Caio Robledo D’Angioli Costa Quaio, Roberta Lelis Dutra, Amanda Salem Brasil, Alexandre C. Pereira, Chong Ae Kim, Débora Romeo Bertola

    Veröffentlicht 2012
    Volltext Volltext
    Carta
    Zu den Favoriten
    Gespeichert in:
  7. 7
    Frequency of Carriers for Rare Metabolic Diseases in a Brazilian Cohort of 320 Patients

    Frequency of Carriers for Rare Metabolic Diseases in a Brazilian Cohort of 320 Patients von Caio Robledo D’Angioli Costa Quaio, Caroline Mônaco Moreira, Christine Hsiaoyun Chung, Sandro Félix Perazzio, Aurélio Pimenta Dutra, Chong Ae Kim

    Veröffentlicht 2021
    Volltext Volltext
    Pré-impressão
    Zu den Favoriten
    Gespeichert in:
  8. 8
    Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients

    Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients von Caio Robledo D’Angioli Costa Quaio, Caroline Mônaco Moreira, Christine Hsiaoyun Chung, Sandro Félix Perazzio, Aurélio Pimenta Dutra, Chong Ae Kim

    Veröffentlicht 2022
    Volltext
    Revisão
    Zu den Favoriten
    Gespeichert in:
  9. 9
    Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned

    Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned von Caio Robledo D’Angioli Costa Quaio, Caroline Mônaco Moreira, Christine Hsiaoyun Chung, Sandro Félix Perazzio, Aurélio Pimenta Dutra, Chong Ae Kim

    Veröffentlicht 2022
    Volltext Volltext
    Carta
    Zu den Favoriten
    Gespeichert in:
  10. 10
    Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?

    Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia? von Thiago Y. Tonholo Silva, Augusto Bragança Reis Rosa, Caio Robledo D’Angioli Costa Quaio, Dineke S. Verbeek, José Luiz Pedroso, Orlando Graziani Póvoas Barsottini

    Veröffentlicht 2021
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  11. 11
    Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports

    Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports von Marília M. Montenegro, Caio Robledo D’Angioli Costa Quaio, Aline Cristina Zandoná-Teixeira, Gil Monteiro Novo‐Filho, Évelin Aline Zanardo, Leslie Domenici Kulikowski, Chong Ae Kim

    Veröffentlicht 2013
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  12. 12
    A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

    A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome von Caio Robledo D’Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lílian Maria José Albano, Israel Gomy, Débora Romeo Bertola, Monica Castro Varela, Célia Priszkulnik Koiffmann, Chong Ae Kim

    Veröffentlicht 2012
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  13. 13
    Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing

    Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing von Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D’Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flávio Sztajnbok, Nilton Salles Rosa Neto, Sandro Félix Perazzio

    Veröffentlicht 2024
    Volltext
    Revisão
    Zu den Favoriten
    Gespeichert in:
  14. 14
    Tegumentary manifestations of Noonan and Noonan-related syndromes

    Tegumentary manifestations of Noonan and Noonan-related syndromes von Caio Robledo D’Angioli Costa Quaio, Tatiana Ferreira de Almeida, Amanda Salem Brasil, Alexandre C. Pereira, Alexander A.L. Jorge, Alexsandra C. Malaquias, Chong Ae Kim, Débora Romeo Bertola

    Veröffentlicht 2013
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  15. 15
    Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)

    Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II) von Caio Robledo D’Angioli Costa Quaio, Henrique Grinberg, Maria Lúcia Carneiro Vieira, Ana Paula, Gabriela Nunes Leal, Israel Gomy, Sandra Leistner‐Segal, Roberto Giugliani, Débora Romeo Bertola, Chong Ae Kim

    Veröffentlicht 2011
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  16. 16
    A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives

    A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives von Caio Robledo D’Angioli Costa Quaio, Thiago Yoshinaga Tonholo Silva, Orlando Graziani Póvoas Barsottini, Sarah Camargos, Marcondes C. França, Jonas Alex Morales Saute, Wilson Marques, Fernando Kok, José Luiz Pedroso

    Veröffentlicht 2025
    Volltext
    Revisão
    Zu den Favoriten
    Gespeichert in:
  17. 17
    Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia

    Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia von José Roberto Mendes Pegler, Diogo Cordeiro de Queiroz Soares, Caio Robledo D’Angioli Costa Quaio, Natália Coelho Couto de Azevedo Fernandes, L. A. O. Nunes, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim

    Veröffentlicht 2016
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  18. 18
    Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

    Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology von Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antônio, Caio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Miguel Mitne‐Neto

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  19. 19
    Impact of ERT and Follow up of 17 Patients from the Same Family with Mild form of MPS II

    Impact of ERT and Follow up of 17 Patients from the Same Family with Mild form of MPS II von Bruno de Oliveira Stephan, Caio Robledo D’Angioli Costa Quaio, Gustavo Marquezani Spolador, Ana Paula, Marco A. Curiati, Ana Maria Martins, Gabriela Nunes Leal, Artur Tenorio, Simone Finzi, Flávia Teixeira Chimelo, Carla Gentile Matas, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim

    Veröffentlicht 2021
    Volltext Volltext
    Pré-impressão
    Zu den Favoriten
    Gespeichert in:
  20. 20
    Parental Segregation Study Reveals Rare Benign and Likely Benign Variants in a Brazilian Cohort of Rare Diseases

    Parental Segregation Study Reveals Rare Benign and Likely Benign Variants in a Brazilian Cohort of Rare Diseases von Caio Robledo D’ Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Murilo Castro Cervato, Helena Strelow Thurow, Caroline Mônaco Moreira, Ana Carolina Gomes Trindade, Cintia Reys Furuzawa, Rafaela Rogerio Floriano de Souza, Sandro Félix Perazzio, Aurélio Pimenta Dutra, Christine Hsiaoyun Chung, Chong Ae Kim

    Veröffentlicht 2021
    Volltext Volltext
    Pré-impressão
    Zu den Favoriten
    Gespeichert in:

Suchwerkzeuge: