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Publications by Manuela Seia
Two ABCB4 Point Mutations of Strategic NBD-motifs Do Not Prevent Protein Targeting to the Plasma Membrane but Promote MDR3 Dysfunction
European Journal of Human Genetics
Genetics
A Wide Methodological Approach to Identify a Large Duplication in CFTR Gene in a CF Patient Uncharacterised by Sequencing Analysis
Journal of Cystic Fibrosis
Child Health
Pulmonary
Pediatrics
Perinatology
Respiratory Medicine
Why, When and How to Investigate Primary Ciliary Dyskinesia in Adult Patients With Bronchiectasis
Multidisciplinary Respiratory Medicine
Pulmonary
Respiratory Medicine
Clinical Application of NGS Tools in the Diagnosis of Collagenopathies
Exploratory Research and Hypothesis in Medicine
Molecular Characterization and Structural Implications of 25 New ABCB4 Mutations in Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3)
European Journal of Human Genetics
Genetics
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Evolution of Genetic and Genomic Features Unique to the Human Lineage
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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
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ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions
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Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity
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Putting Gene Essentiality Into Context
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Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
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Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
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Autoimmune Diseases — Connecting Risk Alleles With Molecular Traits of the Immune System
Nature Reviews Genetics
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Bayesian Molecular Clock Dating of Species Divergences in the Genomics Era
Nature Reviews Genetics
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