Camila Simoes
Montevideo, MO, Uruguay
Last Updated: 09/26/2026
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Found 9 publications
Implementation of a medical genomics program for rare diseases in Uruguay.
Journal: Orphanet journal of rare diseases
Published: February 26, 2026
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report.
Journal: Journal of medical case reports
Published: July 30, 2024
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.
Journal: Frontiers in pediatrics
Published: January 31, 2024
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.
Journal: Frontiers in oncology
Published: June 27, 2023
Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.
Journal: Cold Spring Harbor molecular case studies
Published: July 28, 2022
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.
Journal: Human genomics
Published: June 03, 2022
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Journal: BMC pediatrics
Published: January 01, 2022
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Journal: Human genomics
Published: March 08, 2021
Recurrent Dissemination of SARS-CoV-2 Through the Uruguayan-Brazilian Border.
Journal: Frontiers in microbiology
Published: January 15, 2021
Showing 1-9 of 9
Last Updated: 09/26/2026