Detalhe da pesquisa
1.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Hum Mutat
; 41(1): 277-290, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562665
2.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Blood
; 129(4): 520-524, 2017 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28064200
3.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912466
4.
Increased infection rates associated with tetracycline therapy given for epidermal growth factor receptor inhibitor (EGFRI)-associated acneiform eruption: A retrospective study of data from two cancer centers.
J Am Acad Dermatol
; 82(2): 486-488, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31279812
5.
Dynamic analysis of platelet deposition to resolve platelet adhesion receptor activity in whole blood at arterial shear rate.
Platelets
; 26(3): 216-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24679363
6.
The UK National External Quality Assessment Scheme for heritable bleeding disorders.
Semin Thromb Hemost
; 40(2): 261-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24497120
7.
Plasma IGF-1 and IGFBP-3 may be imprecise surrogates for breast concentrations: an analysis of healthy women.
Breast Cancer Res Treat
; 138(2): 571-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23456194
8.
Point-of-care testing in haemostasis.
Br J Haematol
; 150(5): 501-14, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20618331
9.
Piriform spider silk sequences reveal unique repetitive elements.
Biomacromolecules
; 11(11): 3000-6, 2010 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20954740
10.
Rare case of hepatocellular carcinoma metastasising to the pituitary and cavernous sinus causing panhypopituitarism and bilateral ophthalmoplegia.
BMJ Case Rep
; 13(10)2020 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33109695
11.
Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.
Thromb Haemost
; 102(2): 287-301, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19652879
12.
Laboratory assay measurement of modified clotting factor concentrates: a review of the literature and recommendations for practice.
J Thromb Haemost
; 17(4): 567-573, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30667575
13.
Long-term safety and efficacy of extended-interval prophylaxis with recombinant factor IX Fc fusion protein (rFIXFc) in subjects with haemophilia B.
Thromb Haemost
; 117(3): 508-518, 2017 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28004057
14.
Plasma and plasma products in the treatment of massive haemorrhage.
Best Pract Res Clin Haematol
; 19(1): 97-112, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16377544
15.
The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia.
Thromb Haemost
; 96(5): 597-601, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17080216
16.
Phase II trial of concurrent paclitaxel, carboplatin, and external-beam radiation followed by surgical resection in locally advanced non-small-cell lung cancer, protocol 99-444.
Clin Lung Cancer
; 8(1): 56-61, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16870047
17.
The effects of unfractionated heparin, low molecular weight heparin and danaparoid on the thromboelastogram (TEG): an in-vitro comparison of standard and heparinase-modified TEGs with conventional coagulation assays.
Blood Coagul Fibrinolysis
; 17(2): 97-104, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16479191
18.
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Sci Transl Med
; 8(328): 328ra30, 2016 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936507
19.
Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.
Hum Mutat
; 26(3): 192-8, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16086308
20.
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Genome Med
; 7(1): 36, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25949529