Mario Cazalla

5PUBLICATIONS
49CO-AUTHORS
Photonics, optoelectronics and optical communicationsCardiology (incl. cardiovascular diseases)Language documentation and descriptionDevelopmental genetics (incl. sex determination)Haematology
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Publications (5)

|Aug 10, 2026
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

|Mar 26, 2026
Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension.

Lucía Miranda-Alcaraz, Mónica Mora-Gómez, Natalia Gallego-Zazo

|Mar 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.

Leonardo Chimirri, J Harry Caufield, Yasemin Bridges

|Sep 28, 2024
Mortality in Patients with 22q11.2 Rearrangements.

Melisa Cilio Arroyuelo, Jair Tenorio-Castano, Luis Fernández García-Moya

|Aug 29, 2024
Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Samuel Sarmiento Doncel, Ronald Guillermo Peláez, Pablo Lapunzina

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Frequent Collaborators

5 joint publications

Jair Tenorio-Castano

3 joint publications

Pablo Lapunzina

3 joint publications

Natalia Gallego-Zazo

3 joint publications

Lucía Miranda-Alcaraz