Rosa A. Pardo

Santiago, RM, Chile

Last Updated: 09/26/2026

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Found 26 publications

Functional MTR and MTRR Variants Show No Association With Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.

Functional MTR and MTRR Variants Show No Association With Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: August 14, 2026

A case of DYNC2H1 -related skeletal ciliopathy: consider comprehensive reanalysis and uncommon, usually filtered variants.

A case of DYNC2H1 -related skeletal ciliopathy: consider comprehensive reanalysis and uncommon, usually filtered variants.

Journal: Clinical dysmorphology

Published: June 10, 2025

A case of DYNC2H1-related skeletal ciliopathy: consider comprehensive reanalysis and uncommon, usually filtered variants.

A case of DYNC2H1-related skeletal ciliopathy: consider comprehensive reanalysis and uncommon, usually filtered variants.

Journal: Clinical dysmorphology

Published: June 10, 2025

Association between CpG-SNPs and nonsyndromic cleft lip palate in a Chilean population.

Association between CpG-SNPs and nonsyndromic cleft lip palate in a Chilean population.

Journal: Archives of oral biology

Published: January 24, 2025

Haplotype-based association between paternal DNMT1 variants and nonsyndromic cleft lip or without cleft palate in Chile.

Haplotype-based association between paternal DNMT1 variants and nonsyndromic cleft lip or without cleft palate in Chile.

Journal: Journal of the World federation of orthodontists

Published: December 16, 2024

The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.

The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.

Journal: Cerebellum (London, England)

Published: December 23, 2023

Alagille syndrome associated to JAG1 gene deletion. An unusual etiology

Alagille syndrome associated to JAG1 gene deletion. An unusual etiology

Journal: Andes pediatrica : revista Chilena de pediatria

Published: May 22, 2023

PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile.

PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile.

Journal: Epigenomics

Published: September 26, 2022

Rett Syndrome: an updated view

Rett Syndrome: an updated view

Journal: Andes pediatrica : revista Chilena de pediatria

Published: July 20, 2022

Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.

Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.

Journal: Reproductive sciences (Thousand Oaks, Calif.)

Published: March 11, 2022

Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile.

Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile.

Journal: Birth defects research

Published: October 26, 2021

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010-2017.

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010-2017.

Journal: BMJ paediatrics open

Published: July 21, 2021

Showing 1-12 of 26

Last Updated: 09/26/2026