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Débora Romeo Bertola

23PUBLICATIONS
122CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genetic immunologyNanomedicineEpigenetics (incl. genome methylation and epigenomics)Anthropological genetics
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Journal

Publications (23)

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|Jan 16, 2026
International guideline on genetic testing of children with short stature.

Andrew Dauber, Alexander A L Jorge, Ola Nilsson

|Dec 24, 2025
A Complex Chromosome Rearrangement Disrupting <i>SYT1</i> Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome.

Débora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa

|Oct 25, 2025
Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola

|Jun 12, 2025
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro

|Dec 08, 2024
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Eduardo Da Cás, José Ricardo Magliocco Ceroni, Guilherme Lopes Yamamoto

|Nov 25, 2024
Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.

Barbara Leitao Braga, Renata da Cunha Scalco, Thais Kataoka Homma

Pageof 4

Frequent Collaborators

6 joint publications

Rachel Sayuri Honjo

6 joint publications

Matheus Augusto Araújo Castro

5 joint publications

Chong Ae Kim

4 joint publications

Alexander Augusto de Lima Jorge

3 joint publications

Ana Cristina Victorino Krepischi

3 joint publications

Lucas Vieira Lacerda Pires

3 joint publications

Alexsandra Christianne Malaquias

2 joint publications

Yuri Uchiyama

2 joint publications

Carla Rosenberg

2 joint publications

Letícia Rocha

Frequent Collaborators

6 joint publications

Rachel Sayuri Honjo

6 joint publications

Matheus Augusto Araújo Castro

5 joint publications

Chong Ae Kim

4 joint publications

Alexander Augusto de Lima Jorge

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