Navegar por "Fundación Pública Galega de Medicina Xenómica "

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

2019- Montalván-Suárez, M.; Esperón Moldes, Uxía Saraiva; Rodríguez Pazos, Laura; Ordoñez Ugalde, Andrés; Moscoso, F.; [et al.]

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

2019- Montalván‐Suárez, Martha; Saraiva Esperón, Uxía; Rodríguez Pazos, Laura; Ordóñez‐Ugalde, Andrés; Moscoso, Fernanda; [et al.]

A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

2019- Gómez Carballa, Alberto; Cebey López, Miriam; Pardo Seco, Jacobo José; Barral Arca, Ruth; RIVERO CALLE, IRENE; [et al.]

Acute basophilic leukaemia secondary to MDS with isolated del(5q)

2019- Loyola Holgado, Inés; Fernández González, Raquel; Trastoy, A.

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

2019- Law, P. J.; Timofeeva, M.; Fernández Rozadilla, Ceres; Broderick, P.; Studd, J.; [et al.]

BDNF genetic variants and methylation: effects on cognition in major depressive disorder

2019- Ferrer, A.; Labad, J.; Salvat-Pujol, N.; Barrachina, M.; Costas Costas, Javier; [et al.]

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

2019- Esperón Moldes, Uxía Saraiva; Pardo Seco, Jacobo José; Montalván-Suárez, M.; Fachal Vilar, Laura; Ginarte Val, Manuel Javier; [et al.]

Blood Biomarkers of Uveal Melanoma: Current Perspectives

2020- Bande Rodriguez, Manuel Francisco; Fernández Marta, Beatriz; Lago Baameiro, Nerea; Santiago Varela, Maria; Silva Rodríguez, Paula; [et al.]

A Comparison of Forensic Age Prediction Models Using Data From Four DNA Methylation Technologies

2020- Freire-Aradas, A; Pospiech, E; Aliferi, A; Giron-Santamaria, L; Mosquera-Miguel, A; [et al.]

A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel

2020- Phillips, C.; de la Puente, M.; Ruiz-Ramirez, J.; Lareu, M.V.; Amigo Lechuga, Jorge; [et al.]

A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel

2020- Phillips, C; Amigo Lechuga, Jorge; Tillmar, AO; Peck, MA; de la Puente, M; [et al.]

CystAnalyser: A new software tool for the automatic detection and quantification of cysts in Polycystic Kidney and Liver Disease, and other cystic disorders

2020- Cordido Eijo, Adrian; Cernadas, Eva; Fernández-Delgado, Manuel; García González , Miguel Ángel

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

2019- Fernández Rozadilla, Ceres; Alvarez-Barona, M.; Schamschula, E.; Bodo, S.; López Novo, Anael; [et al.]

Estimating Exposome Score for Schizophrenia Using Predictive Modeling Approach in Two Independent Samples: The Results From the EUGEI Study

2019- Pries, L. K.; Lage-Castellanos, A.; Delespaul, P.; Kenis, G.; Luykx, J. J.; [et al.]

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

2019- Figlioli, G.; Bogliolo, M.; Catucci, I.; Caleca, L.; Lasheras, S. V.; [et al.]

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

2019- Moreno-Grau, S.; de Rojas, I.; Hernández, I.; Quintela, I.; Montrreal, L.; [et al.]

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

2019- Ferreira, M. A.; Gamazon, E. R.; Al-Ejeh, F.; Aittomäki, K.; Andrulis, I. L.; [et al.]

Genome-wide association study of germline variants and breast cancer-specific mortality

2019- Escala-Garcia, M.; Guo, Q.; Dörk, T.; Canisius, S.; Keeman, R.; [et al.]

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

2020- Velazquez, C; De Leeneer, K; Esteban Cardeñosa, Eva María; Cobos, FA; Lastra, E; [et al.]

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

2020- Tuazon, AMD; Lott, P; Bohorquez, M; Benavides, J; Ramirez, C; [et al.]

Repositorio digital RUNA

Navegar por "Fundación Pública Galega de Medicina Xenómica "

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations ﻿

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations ﻿

A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children ﻿

Acute basophilic leukaemia secondary to MDS with isolated del(5q) ﻿

Association analyses identify 31 new risk loci for colorectal cancer susceptibility ﻿

BDNF genetic variants and methylation: effects on cognition in major depressive disorder ﻿

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population ﻿

Blood Biomarkers of Uveal Melanoma: Current Perspectives ﻿

A Comparison of Forensic Age Prediction Models Using Data From Four DNA Methylation Technologies ﻿

A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel ﻿

A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel ﻿

CystAnalyser: A new software tool for the automatic detection and quantification of cysts in Polycystic Kidney and Liver Disease, and other cystic disorders ﻿

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum ﻿

Estimating Exposome Score for Schizophrenia Using Predictive Modeling Approach in Two Independent Samples: The Results From the EUGEI Study ﻿

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ﻿

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project ﻿

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer ﻿

Genome-wide association study of germline variants and breast cancer-specific mortality ﻿

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer ﻿

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia ﻿

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

Acute basophilic leukaemia secondary to MDS with isolated del(5q)

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

BDNF genetic variants and methylation: effects on cognition in major depressive disorder

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

Blood Biomarkers of Uveal Melanoma: Current Perspectives

A Comparison of Forensic Age Prediction Models Using Data From Four DNA Methylation Technologies

A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel

A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel

CystAnalyser: A new software tool for the automatic detection and quantification of cysts in Polycystic Kidney and Liver Disease, and other cystic disorders

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

Estimating Exposome Score for Schizophrenia Using Predictive Modeling Approach in Two Independent Samples: The Results From the EUGEI Study

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Genome-wide association study of germline variants and breast cancer-specific mortality

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia