Tirsa van Duijl
@tirsateresa.bsky.social
Postdoc & mass spectrometrist.
Pinned
Tirsa van Duijl
@tirsateresa.bsky.social
· Feb 26
Variant mapping using mass spectrometry–based proteotyping as a diagnostic tool in von Willebrand disease
von Willebrand disease (VWD) is the most common inherited bleeding disorder, characterized
by either partial or complete von Willebrand factor (VWF) deficiency or by the occurrence
of VWF proteoforms ...
www.jthjournal.org
Joining the Bluesky babbling community! 💫 Key interests: Hematology & proteogenomic research. Personal highlight from last year:
www.jthjournal.org/article/S153...
www.jthjournal.org/article/S153...
Why should we include carriers in trial design for X-linked disorders? The dysfunctional protein shapes the disease, either through gain or loss of function: ashpublications.org/bloodvth/art...
F9 missense variant hot spots associated with qualitative protein defects causing hemophilia B
Key PointsA roadmap of F9 missense mutations highlights hot spots of amino acid substitutions associated with qualitative defects in FIX.Treatment response
ashpublications.org
September 22, 2025 at 7:28 PM
Why should we include carriers in trial design for X-linked disorders? The dysfunctional protein shapes the disease, either through gain or loss of function: ashpublications.org/bloodvth/art...
Joining the Bluesky babbling community! 💫 Key interests: Hematology & proteogenomic research. Personal highlight from last year:
www.jthjournal.org/article/S153...
www.jthjournal.org/article/S153...
Variant mapping using mass spectrometry–based proteotyping as a diagnostic tool in von Willebrand disease
von Willebrand disease (VWD) is the most common inherited bleeding disorder, characterized
by either partial or complete von Willebrand factor (VWF) deficiency or by the occurrence
of VWF proteoforms ...
www.jthjournal.org
February 26, 2025 at 8:31 PM
Joining the Bluesky babbling community! 💫 Key interests: Hematology & proteogenomic research. Personal highlight from last year:
www.jthjournal.org/article/S153...
www.jthjournal.org/article/S153...