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PubPharm (53)
1
Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms
enthalten in:
Blood advances
| 2020
von
Cartwright, A.
|
Webster, S.
|
de Jong, A.
| +11
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2
Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service
enthalten in:
International journal of neonatal screening
| 2019
von
van Campen, J.
|
Sollars, E.
|
Thomas, R.
| +11
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3
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders : Communication from the SSC of the ISTH
enthalten in:
Journal of thrombosis and haemostasis : JTH
| 2019
von
Megy, K.
|
Downes, K.
|
Simeoni, I.
| +12
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4
Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders : Communication from the SSC of the ISTH
enthalten in:
Journal of Thrombosis and Haemostasis
| 2019
von
Megy, K.
|
Downes, K.
|
Simeoni, I.
| +11
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5
The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance
enthalten in:
Blood advances
| 2018
von
Mufti, A.
|
Ogiwara, K.
|
Swystun, L.
| +10
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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
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7
Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States
enthalten in:
Blood
| 2016
von
Flood, V.
|
Christopherson, P.
|
Gill, J.
| +22
CommentIn: Blood. 2016 May 19;127(20):2373-4. - PMID 27207323
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8
Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States
enthalten in:
Blood
| 2016
von
Flood, V.
|
Christopherson, P.
|
Gill, J.
| +22
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9
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
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10
Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease
enthalten in:
PloS one
| 2015
von
Stockley, J.
|
Nisar, S.
|
Leo, V.
| +10
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Zeitschriftentitel
12
Blood
6
British journal of haematology
6
Haematologica
6
Seminars in thrombosis and hemostasis
4
Annals of hematology
3
Haematologica, the hematology journal
2
Archives of virology
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International journal of neonatal screening
1
Journal of Thrombosis and Haemostasis
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Journal of thrombosis and haemostasis : JTH
1
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1
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Thrombosis and haemostasis
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Research Support, Non-U.S. Gov't
12
von Willebrand Factor
6
Research Support, N.I.H., Extramural
5
Letter
5
Review
4
9001-27-8
4
Comment
4
EC 2.7.10.1
4
Factor VIII
3
Causative Mutation
3
Index Case
3
Intronic Variant
3
Population Frequency
3
Receptor Protein-Tyrosine Kinases
3
Synonymous Variant
2
9007-49-2
2
Comparative Study
2
DNA
2
DNA Primers
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Erscheinungszeitraum
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2000-
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1900-1999
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