Claudia Fernandes Lorea

4PUBLICATIONS
52CO-AUTHORS
Respiratory diseasesDevelopmental genetics (incl. sex determination)Anthropological genetics
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Publications (4)

|Sep 15, 2026
Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.

|Aug 25, 2026
Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

|May 04, 2021
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

Carson J Bryant, Cláudia F Lorea, Hiram Larangeira de Almeida

|Aug 01, 2020
Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.

Bruna Lixinski Diniz, Andressa Schneiders Santos, Andressa Barreto Glaeser

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Frequent Collaborators

2 joint publications

Paulo Ricardo Gazzola Zen

2 joint publications

Ida Vanessa Doederlein Schwartz

1 joint publications

Carson J Bryant

1 joint publications

Hiram Larangeira de Almeida