Showing the latest 480 publications
Publications 311-320 of 480
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Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders
Downes, K., Megy, K., Duarte, D., Vries, M., Gebhart, J., Hofer, S., et al.
Blood
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Gorman, K., Meyer, E., Grozeva, D., Spinelli, E., McTague, A., Sanchis-Juan, A., et al.
American Journal of Human Genetics
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Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
Silva, R., Arno, G., Cipriani, V., Pontikos, N., Defoort-Dhellemmes, S., Kalhoro, A., et al.
Human Mutation
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A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets
Padmakumar, M., Jaeken, J., Ramaekers, V., Lagae, L., Greene, D., Thys, C., et al.
JIMD reports
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NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation and CD8 T Cell Responses
Corridoni, D., Shiraishi, S., Chapman, T., Steevels, T., Muraro, D., Thézénas, M., et al.
Frontiers in Immunology
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FcγRIIb differentially regulates pre-immune and germinal center B cell tolerance in mouse and human
Espéli, M., Bashford-Rogers, R., Sowerby, J., Alouche, N., Wong, L., Denton, A., et al.
Nature Communications
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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
French, C., Delon, I., Dolling, H., Sanchis-Juan, A., Shamardina, O., Mégy, K., et al.
Intensive Care Medicine
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Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
Rhodes, C., Batai, K., Bleda, M., Haimel, M., Southgate, L., Germain, M., et al.
The Lancet. Respiratory Medicine
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Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance
van der Klaauw, A., Croizier, S., Mendes de Oliveira, E., Stadler, L., Park, S., Kong, Y., et al.
Cell
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Bauwens, M., Garanto, A., Sangermano, R., Naessens, S., Weisschuh, N., De Zaeytijd, J., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics