Alicia Belgorosky

6PUBLICATIONS
23CO-AUTHORS
Gene mappingInfant and child healthEpigenetics (incl. genome methylation and epigenomics)Haematological tumoursDevelopmental genetics (incl. sex determination)
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Publications (6)

|Jun 22, 2026
Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss.

|Feb 28, 2022
Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study.

M Del Pino, G L Viterbo, M A Arenas

|Apr 26, 2021
Response to Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia".

Roxana Marino, Natalia Perez Garrido, Pablo Ramirez

|Mar 17, 2021
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Sebastian Alexis Vishnopolska, Maria Florencia Mercogliano, Maria Andrea Camilletti

|Jan 22, 2021
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.

Roxana Marino, Natalia Perez Garrido, Pablo Ramirez

|Sep 26, 2018
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino

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Frequent Collaborators

2 joint publications

Natalia Perez Garrido

2 joint publications

Pablo Ramirez

2 joint publications

Roxana Marino

2 joint publications

Sally Ann Camper