Search Results - Débora Romeo Bertola

Refine Results
  1. 1
    Systemic hyalinosis: new terminology, severity grading system, and surgical approach

    Systemic hyalinosis: new terminology, severity grading system, and surgical approach by Rafael Denadai, Débora Romeo Bertola, Cássio Eduardo Raposo-Amaral

    Published 2012
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  2. 2
    Hyaline fibromatosis syndrome: New unifying term and surgical approach

    Hyaline fibromatosis syndrome: New unifying term and surgical approach by Rafael Denadai, Débora Romeo Bertola, CassioEduardo Raposo-Amaral

    Published 2012
    Get full text
    Carta
    Save to List
    Saved in:
  3. 3
    Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

    Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects by Débora Romeo Bertola, Rachel S. Honjo, Wagner Antonio da Rosa Baratela

    Published 2016
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  4. 4
    Rothmund-Thomson syndrome, a disorder far from solved

    Rothmund-Thomson syndrome, a disorder far from solved by Davi Jardim Martins, Ricardo Di Lazzaro Filho, Débora Romeo Bertola, Nícolas C. Hoch

    Published 2023
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  5. 5
    Infantile autism and 47,XYY karyotype

    Infantile autism and 47,XYY karyotype by Evelyn Kuczynski, Débora Romeo Bertola, Cláudia Irene Emílio de Castro, Célia Priszkulnik Koiffmann, Chong Ae Kim

    Published 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Noonan syndrome: a clinical and genetic study of 31 patients

    Noonan syndrome: a clinical and genetic study of 31 patients by Débora Romeo Bertola, Sofia M. M. Sugayama, Lílian Maria José Albano, Chong Ae Kim, Claudette Hajaj Gonzalez

    Published 1999
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Manchas hipomelanocíticas associadas à epilepsia: alerta ao diagnóstico de esclerose tuberosa

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

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    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... by Ana Carolina Fonseca, Adriano Bonaldi, Débora Romeo Bertola, Chong Ae Kim, Paulo Alberto Otto, Angela Maria Vianna‐Morgante

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    OMODYSPLASIA: THE FIRST REPORTED BRAZILIAN CASE

    OMODYSPLASIA: THE FIRST REPORTED BRAZILIAN CASE by Lílian Maria José Albano, LUIZ ANTONIO NUNES DE OLIVEIRA, Débora Romeo Bertola, Juliana F. Mazzu, Chong Ae Kim

    Published 2007
    Get full text
    Carta
    Save to List
    Saved in:
  10. 10
    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 by Caio Robledo D’Angioli Costa Quaio, Yoshiro Koda, Débora Romeo Bertola, Maja Sukalo, Martin Zenker, Chong Ae Kim

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene

    Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene by Débora Romeo Bertola, Alexandre C. Pereira, Amanda Salem Brasil, Lílian Maria José Albano, Chong Ae Kim, José Eduardo Krieger

    Published 2007
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Genetics and genomics in Brazil: a promising future

    Genetics and genomics in Brazil: a promising future by Maria Rita Passos‐Bueno, Débora Romeo Bertola, Dafne Dain Gandelman Horovitz, Victor Evangelista de Faria Ferraz, Luciano Abreu Brito

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

    Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? by José RM Ceroni, Guilherme Lopes Yamamoto, Rachel Sayuri Honjo, Chong Ae Kim, Maria Rita Passos‐Bueno, Débora Romeo Bertola

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers

    Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers by Roberta Lelis Dutra, Patrícia de Campos Pieri, Ana Carolina Dias Teixeira, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    A Possible Role of Different PTPN Genes in Immune Regulation

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

    Published 2012
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  16. 16
    Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review

    Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review by Lílian Maria José Albano, Silvana Nishioka, Regina Lúcia Moysés, Jaqueline Wagenführ, Débora Romeo Bertola, Sofia Mizuho Miura Sugayama, Anne‐Sophie Chong

    Published 2002
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  17. 17
    Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes

    Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes by Carolina Moreno, Konradin Metze, Elizete Aparecida Lomazi, Débora Romeo Bertola, Ricardo Henrique Almeida Barbosa, Viviana Cosentino, Nara Sobreira, Denise P. Cavalcanti

    Published 2016
    Get full text
    Revisão
    Save to List
    Saved in:
  18. 18
    Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp

    Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp by Débora Romeo Bertola, Michelle Buscarilli, Deborah L. Stabley, Laura Baker, Daniel Doyle, Dennis W. Bartholomew, Katia Sol‐Church, Karen W. Gripp

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

    Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis by Lílian Maria José Albano, Paula Priscila Ohara Sakae, Marta Maria Galli Bozzo Mataloun, Cléa Rodrigues Leone, Débora Romeo Bertola, Chong Ae Kim

    Published 2004
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

    Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome by Mary Jane Gray, Chong Ae Kim, Débora Romeo Bertola, Paula Ricci Arantes, Helen Stewart, Michael A. Simpson, Melita Irving, Stephen P. Robertson

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: