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Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.
Published in:
2018
By:
- Kanhai, Danny;
- Mulder, René;
- Ploos van Amstel, Hans Kristian;
- Schutgens, Roger;
- Lukens, Michael;
- Tamminga, Rienk Y.J.
Publication type:
journal article
Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects.
Published in:
American Journal of Hematology, 2020, v. 95, n. 10, p. 1142, doi. 10.1002/ajh.25910
By:
- Blaauwgeers, Maaike W.;
- Kruip, Marieke J.H.A.;
- Beckers, Erik A.M.;
- Coppens, Michiel;
- Eikenboom, Jeroen;
- Galen, Karin P.M.;
- Tamminga, Rienk Y.J.;
- Urbanus, Rolf T.;
- Schutgens, Roger E.G.
Publication type:
Article
The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.
Published in:
American Journal of Hematology, 2020, v. 95, n. 1, p. E26, doi. 10.1002/ajh.25667
By:
- Blaauwgeers, Maaike W.;
- Asten, Ivar;
- Kruip, Marieke J.H.A.;
- Beckers, Erik A.M.;
- Coppens, Michiel;
- Eikenboom, Jeroen;
- Galen, Karin P.M.;
- Huisman, Albert;
- Korporaal, Suzanne J.A.;
- Ploos van Amstel, Hans Kristian;
- Tamminga, Rienk Y.J.;
- Urbanus, Rolf T.;
- Schutgens, Roger E.G.
Publication type:
Article
Splenectomy in children with idiopathic thrombocytopenic purpura: A prospective study of 134 children from the Intercontinental Childhood ITP Study Group.
Published in:
Pediatric Blood & Cancer, 2007, v. 49, n. 6, p. 829, doi. 10.1002/pbc.21108
By:
- Kühne, Thomas;
- Blanchette, Victor;
- Buchanan, George R.;
- Ramenghi, Ugo;
- Donato, Hugo;
- Tamminga, Rienk Y.J.;
- Rischewski, Johannes;
- Berchtold, Willi;
- Imbach, Paul
Publication type:
Article
Rituximab treatment for symptomatic chronic ITP.
Published in:
Pediatric Blood & Cancer, 2006, v. 47, n. S5, p. 714, doi. 10.1002/pbc.20967
By:
- Tamminga, Rienk Y.J.;
- Bruin, Marrie C.A.
Publication type:
Article
Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.
Published in:
Human Mutation, 2000, v. 15, n. 4, p. 386, doi. 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU24>3.0.CO;2-1
By:
- Brooimans, Rik A.;
- van den Berg, Adriënne J.A.M;
- Tamminga, Rienk Y.J.;
- Revesz, Tom;
- Wulffraat, Nico M.;
- Zegers, Ben J.M.
Publication type:
Article

Found: 6

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.

Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects.

The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.

Splenectomy in children with idiopathic thrombocytopenic purpura: A prospective study of 134 children from the Intercontinental Childhood ITP Study Group.

Rituximab treatment for symptomatic chronic ITP.

Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.