| Pardo J, Simon MM, Froelich CJ
Granzyme A is a proinflammatory protease. [Comment, Letter]
Blood 2009 Oct 29; 114(18):3968; author reply 3969-70.
Full Citation | Publisher Full Text | Find Related Articles | | Koçak H, Ozaydin E, Köse G, et al.
A Feingold syndrome case with previously undescribed features and a new mutation. [Journal Article]
Genet Couns 2009; 20(3):261-7.
Abstract | Full Citation | Find Related Articles | | d'Hennezel E, Ben-Shoshan M, Ochs HD, et al.
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. [Case Reports, Letter, Research Support, Non-U.S. Gov't]
N Engl J Med 2009 Oct 22; 361(17):1710-3.
Full Citation | Find Related Articles | | Simioni P, Tormene D, Tognin G, et al.
X-linked thrombophilia with a mutant factor IX (factor IX Padua). [Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
N Engl J Med 2009 Oct 22; 361(17):1671-5.
Abstract | Full Citation | Find Related Articles | | Maron BJ, Lesser JR, Schiller NB, et al.
Implications of hypertrophic cardiomyopathy transmitted by sperm donation. [Case Reports, Journal Article, Research Support, Non-U.S. Gov't]
JAMA 2009 Oct 21; 302(15):1681-4.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Paliwal P, Gupta J, Tandon R, et al.
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. [Case Reports, Journal Article, Research Support, Non-U.S. Gov't]
Arch Ophthalmol 2009 Oct; 127(10):1373-6.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Yang T, Chung SK, Zhang W, et al.
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Circ Arrhythm Electrophysiol 2009 Aug; 2(4):417-26.
Abstract | Full Citation | | Watanabe H, Darbar D, Kaiser DW, et al.
Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation. [Journal Article, Research Support, N.I.H., Extramural]
Circ Arrhythm Electrophysiol 2009 Jun; 2(3):268-75.
Abstract | Full Citation | Find Related Articles | | Wang DW, Crotti L, Shimizu W, et al.
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Circ Arrhythm Electrophysiol 2008 Dec; 1(5):370-8.
Abstract | Full Citation | | Chiaruttini C, Vicario A, Li Z, et al.
Dendritic trafficking of BDNF mRNA is mediated by translin and blocked by the G196A (Val66Met) mutation. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Proc Natl Acad Sci U S A 2009 Sep 22; 106(38):16481-6.
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