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

PubPharm (8)

1

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

enthalten in: Blood | 2020

von Sims, M. | Mayer, L. | Collins, J. | +61

CommentIn: Blood. 2020 Oct 22;136(17):1900-1901. - PMID 33091135

2

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

enthalten in: Blood | 2019

von Lentaigne, C. | Greene, D. | Sivapalaratnam, S. | +28

CommentIn: Blood. 2019 Dec 5;134(23):2000-2002. - PMID 31805194

3

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

enthalten in: Blood | 2017

von Sivapalaratnam, S. | Westbury, S. | Stephens, J. | +23

CommentIn: Blood. 2017 Jan 26;129(4):403-404. - PMID 28126957

4

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

enthalten in: Blood | 2017

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

5

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

6

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

7

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

8

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

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