Showing the latest 455 publications
Publications 281-290 of 455
-
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Lentaigne, C., Greene, D., Sivapalaratnam, S., Favier, R., Seyres, D., Thys, C., et al.
Blood
-
De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family
De Kock, L., Thys, C., Downes, K., Duarte, D., Megy, K., Van Geet, C., et al.
Platelets
-
Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency
Tuijnenburg, P., Lango Allen, H., de Bree, G., Savic, S., Jansen, M., Stockdale, C., et al.
Clinical Immunology (Orlando, Fla.)
-
ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions
Dolzhenko, E., Deshpande, V., Schlesinger, F., Krusche, P., Petrovski, R., Chen, S., et al.
Bioinformatics (Oxford, England)
-
Germline selection shapes human mitochondrial DNA diversity
Wei, W., Tuna, S., Keogh, M., Smith, K., Aitman, T., Beales, P., et al.
Science (New York, N.Y.)
-
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
-
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
-
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
-
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
-
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