Associated Papers
Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.
Yang EJ et al.
Journal of Pediatric Hematology/oncology, 2020
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe E et al.
British Journal of Haematology, 2017
28748566 (PubMed )
Supplement: BJH-179-308-s001.docx
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
Jang MJ et al.
Yonsei Medical Journal, 2012
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