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(1 - 4 of 4)
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Simeoni, I.; Stephens, J.C.; Hu, F.Y.; Deevi, S.V.V.; Megy, K.; Bariana, T.K.; ... ; Turro, E. 2016
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Article / Letter to editor
metadata only
FTO genotype is associated with phenotypic variability of body mass index
Yang, J.; Loos, R.J.F.; Powell, J.E.; Medland, S.E.; Speliotes, E.K.; Chasman, D.I.; ... ; Visscher, P.M. 2012
FTO genotype is associated with phenotypic variability of body mass index
Article / Letter to editor
metadata only
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
Albers, C.A.; Paul, D.; Schulze, H.; Freson, K.; Stephens, J.C.; Smethurst, P.A.; ... ; Ghevaert, C. 2012
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
Article / Letter to editor
metadata only
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Albers, C.A.; Paul, D.S.; Schulze, H.; Freson, K.; Stephens, J.C.; Smethurst, P.A.; ... ; Ghevaert, C. 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Article / Letter to editor
metadata only