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PubPharm (215)
1
Thrombophilia Testing : from Genetic Predisposition to Discrimination
enthalten in:
TH open : companion journal to thrombosis and haemostasis
| 2024
von
Verstraete, A.
|
Freson, K.
|
Verhamme, P.
| +1
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2
Genetic association analysis of 269 rare diseases reveals novel aetiologies
enthalten in:
bioRxiv.org
| 2024
von
Greene, D.
|
Pirri, D.
|
Frudd, K.
| +29
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3
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia
enthalten in:
Journal of thrombosis and haemostasis : JTH
| 2024
von
Zaninetti, C.
|
Rivera, J.
|
Vater, L.
| +15
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4
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework
enthalten in:
Journal of thrombosis and haemostasis : JTH
| 2024
von
Ross, J.
|
Mohan, S.
|
Zhang, J.
| +20
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5
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Accogli, A.
|
Park, Y.
|
Lenk, G.
| +19
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6
Importance of early career professionals in the SSC of the ISTH
enthalten in:
Journal of thrombosis and haemostasis : JTH
| 2024
von
Freson, K.
|
Carrier, M.
|
Clark, C.
| +1
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7
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
enthalten in:
Blood
| 2023
von
Stefanucci, L.
|
Collins, J.
|
Sims, M.
| +32
CommentIn: Blood. 2023 Dec 14;142(24):2037-2038. - PMID 38095926
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8
Blood Coagulation and Beyond : Position Paper from the Fourth Maastricht Consensus Conference on Thrombosis
enthalten in:
Thrombosis and haemostasis
| 2023
von
Akbulut, A.
|
Arisz, R.
|
Baaten, C.
| +61
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9
Genetic Modifiers of Antihrombin, Protein C, and Protein S Plasma Levels
enthalten in:
Arteriosclerosis, thrombosis, and vascular biology
| 2023
von
Freson, K.
CommentOn: Arterioscler Thromb Vasc Biol. 2023 Jul;43(7):e254-e269. - PMID 37128921
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10
Ribosome dysfunction underlies SLFN14-related thrombocytopenia
enthalten in:
Blood
| 2023
von
Ver Donck, F.
|
Ramaekers, K.
|
Thys, C.
| +6
CommentIn: Blood. 2023 May 4;141(18):2170-2172. - PMID 37140956
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Blood
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Journal of thrombosis and haemostasis : JTH
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European journal of pediatrics
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American journal of human genetics
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GTP-Binding Protein alpha Subunits, Gs
11
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9
GATA1 Transcription Factor
8
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6
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