Monica P. Cozar

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 26 publications

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Journal: American journal of medical genetics. Part A

Published: March 13, 2025

Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.

Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.

Journal: Human genomics

Published: February 02, 2024

On the association between Chiari malformation type 1, bone mineral density and bone related genes.

On the association between Chiari malformation type 1, bone mineral density and bone related genes.

Journal: Bone reports

Published: June 12, 2021

Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

Journal: International journal of molecular sciences

Published: December 15, 2020

18F-choline PET/MRI on initial staging of prostate cancer. Impact on therapy approach.

18F-choline PET/MRI on initial staging of prostate cancer. Impact on therapy approach.

Journal: Revista espanola de medicina nuclear e imagen molecular

Published: June 23, 2020

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Journal: Molecular genetics and metabolism reports

Published: March 17, 2020

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

Journal: Journal of clinical medicine

Published: January 31, 2020

Corrigendum to "Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample" [Drug Alcohol Depend. 187 (2018) 358-362].

Corrigendum to "Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample" [Drug Alcohol Depend. 187 (2018) 358-362].

Journal: Drug and alcohol dependence

Published: January 17, 2020

Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.

Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.

Journal: Stem cell research

Published: November 13, 2019

Standardization of acquisition protocols using PET/CT with 18F-Choline in prostate cancer.

Standardization of acquisition protocols using PET/CT with 18F-Choline in prostate cancer.

Journal: Revista espanola de medicina nuclear e imagen molecular

Published: October 05, 2019

Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.

Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.

Journal: Stem cell research

Published: August 01, 2019

Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

Journal: Bone

Published: January 29, 2019

Showing 1-12 of 26

Last Updated: 09/26/2026