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Article / Letter to editor
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2012
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Jolley, J.D.
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Favier, R.
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Smethurst, P.A.
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Stephens, J.C.
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Albers, C.A.
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Bertone, P.
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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
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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
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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
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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