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Publications by Jose Pitarque

Novel Mutation and Three Other Sequence Variants Segregating With Phenotype at Keratoconus 13q32 Susceptibility Locus

European Journal of Human Genetics

English

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Three Novel Variants Identified Within ECM-related Genes in Chinese Han Keratoconus Patients

Scientific Reports

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Novel Susceptibility Locus at Chromosome 6q16.3-22.31 in a Family With GEFS+

English

ATM Sequence Variants Associate With Susceptibility to Non-Small Cell Lung Cancer

International Journal of Cancer

Cancer Research

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Systematical Analyses of Variants in CTCF-binding Sites Identified a Novel Lung Cancer Susceptibility Locus Among Chinese Population

Scientific Reports

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Phenotype Characterization and Sequence Analysis of BMP2 and BMP4 Variants in Two Mexican Families With Oligodontia

Genetics and Molecular Research

Molecular Biology

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TheFBN2gene: New Mutations, Locus-Specific Database (Universal Mutation DatabaseFBN2), and Genotype-Phenotype Correlations

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The Breast Cancer Susceptibility Mutation PALB2 1592delT Is Associated With an Aggressive Tumor Phenotype

Clinical Cancer Research

Cancer Research

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Novel Epilepsy Phenotype Associated to a Known SCN8A Mutation

Seizure : the journal of the British Epilepsy Association

English

Common Variants Within 6p21.31 Locus Are Associated With Chronic Lymphocytic Leukaemia And, Potentially, Other Non-Hodgkin Lymphoma Subtypes

British Journal of Haematology

English