Suchergebnisse - "Nurden, Paquita"

PubPharm (211)

91

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

enthalten in: Nature genetics | 2012

von Albers, C. | Paul, D. | Schulze, H. | +28

CommentIn: Clin Genet. 2012 Jul;82(1):29-30. - PMID 22486491

92

Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia

enthalten in: Case reports in hematology | 2012

von Nurden, A. | Mercié, P. | Zely, P. | +1

93

Glanzmann thrombasthenia : a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

enthalten in: Blood | 2011

von Nurden, A. | Fiore, M. | Nurden, P. | +1

94

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

enthalten in: Blood | 2011

von Nurden, P. | Debili, N. | Coupry, I. | +17

95

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

enthalten in: Blood | 2011

von Nurden, P. | Debili, N. | Coupry, I. | +17

96

Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations??

enthalten in: Platelets | 2011

von Nurden, A. | Fiore, M. | Nurden, P. | +2

97

Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin

enthalten in: Seminars in thrombosis and hemostasis | 2011

von Nurden, A. | Pillois, X. | Fiore, M. | +2

98

Megakaryocytes possess a functional intrinsic apoptosis pathway that must be restrained to survive and produce platelets

enthalten in: The Journal of experimental medicine | 2011

von Josefsson, E. | James, C. | Henley, K. | +14

99

Glanzmann Thrombasthenia-Like Syndromes Associated with Macrothrombocytopenias and Mutations in the Genes Encoding the αIIbβ3 Integrin

enthalten in: Seminars in thrombosis and hemostasis | 2011

von Nurden, A. | Pillois, X. | Fiore, M. | +2

100

Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families

enthalten in: European journal of human genetics : EJHG | 2011

von Fiore, M. | Pillois, X. | Nurden, P. | +2