Soledad Rodriguez
Montevideo, MO, Uruguay
Last Updated: 09/26/2026
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Found 11 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
Effects of Fermentation Temperature, Drying Temperature, Caliber Size, Starter Culture, and Sodium Lactate on Listeria monocytogenes Inactivation During Salami Production.
Journal: Journal of food protection
Published: November 27, 2023
Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia.
Journal: Diagnostics (Basel, Switzerland)
Published: November 23, 2023
Fibrodysplasia ossificans progressiva in a 3-year-old female patient.
Journal: Boletin medico del Hospital Infantil de Mexico
Published: March 03, 2023
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
Effect of UV-C Irradiation and Lactic Acid Application on the Inactivation of Listeria monocytogenes and Lactic Acid Bacteria in Vacuum-Packaged Beef.
Journal: Foods (Basel, Switzerland)
Published: May 01, 2021
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
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.
Journal: Molecular genetics & genomic medicine
Published: September 18, 2020
Showing 1-11 of 11
Last Updated: 09/26/2026