Associated Papers
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
36507135 (PubMed )
Supplement: Table1.xlsx › Sheet1
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
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
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Albert JS et al.
Orphanet Journal of Rare Diseases, 2015
25888122 (PubMed )
Supplement: 13023_2015_235_MOESM1_ESM.pdf
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