Showing the latest 461 publications
Publications 331-340 of 461
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DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM
Khan, K., Lord, E., Arno, G., Islam, F., Carss, K., Raymond, F., et al.
Retina (Philadelphia, Pa.)
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Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells
Smets, I., Fiddes, B., Garcia-Perez, J., He, D., Mallants, K., Liao, W., et al.
Brain: A Journal of Neurology
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NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease
Schwerd, T., Bryant, R., Pandey, S., Capitani, M., Meran, L., Cazier, J., et al.
Mucosal Immunology
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Nbeal2 interacts with Dock7, Sec16a, and Vac14
Mayer, L., Jasztal, M., Pardo, M., Aguera de Haro, S., Collins, J., Bariana, T., et al.
Blood
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The Impact of NOD2 Variants on Fecal Microbiota in Crohn's Disease and Controls Without Gastrointestinal Disease
Kennedy, N., Lamb, C., Berry, S., Walker, A., Mansfield, J., Parkes, M., et al.
Inflammatory Bowel Diseases
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Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair
Liu, F., Chen, Y., Zhu, G., Hysi, P., Wu, S., Adhikari, K., et al.
Human Molecular Genetics
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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Ellingford, J., Horn, B., Campbell, C., Arno, G., Barton, S., Tate, C., et al.
Journal of Medical Genetics
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Metabolomic markers of fatigue: Association between circulating metabolome and fatigue in women with chronic widespread pain
Freidin, M., Wells, H., Potter, T., Livshits, G., Menni, C., Williams, F.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
Farmery, J., Smith, M., Lynch, A.
Scientific Reports
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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Hadinnapola, C., Bleda, M., Haimel, M., Screaton, N., Swift, A., Dorfmüller, P., et al.
Circulation