Suchergebnisse - (Person:"Stephens, Jonathan C")

PubPharm (32)

11

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

enthalten in: Blood | 2017

von Sivapalaratnam, S. | Westbury, S. | Stephens, J. | +22

12

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

enthalten in: Blood | 2016

von Stritt, S. | Nurden, P. | Turro, E. | +43

CommentIn: Blood. 2016 Jun 9;127(23 ):2781-2. - PMID 27282940

13

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

enthalten in: Blood | 2016

von Simeoni, I. | Stephens, J. | Hu, F. | +76

CommentIn: Blood. 2016 Jun 9;127(23 ):2781-2. - PMID 27282940

14

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

enthalten in: Science translational medicine | 2016

von Turro, E. | Greene, D. | Wijgaerts, A. | +56

15

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

enthalten in: Blood | 2016

von Simeoni, I. | Stephens, J. | Hu, F. | +76

16

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

enthalten in: Blood | 2016

von Stritt, S. | Nurden, P. | Turro, E. | +42

17

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

enthalten in: Genome medicine | 2015

von Westbury, S. | Turro, E. | Greene, D. | +37

18

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

enthalten in: Genome medicine | 2015

von Westbury, S. | Turro, E. | Greene, D. | +37

19

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

enthalten in: Genome medicine | 2015

von Westbury, S. | Turro, E. | Greene, D. | +38

20

Common genetic variants do not associate with CAD in familial hypercholesterolemia

enthalten in: European journal of human genetics : EJHG | 2014

von van Iperen, E. | Sivapalaratnam, S. | Boekholdt, S. | +11