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(1 - 8 of 8)
Blood coagulation and beyond
Illustrated state-of-the-art capsules of the ISTH 2021 Congress
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome