| Bass SJ, Noble KG
A Thr17Met Mutation Is Associated With an Unusual Retinochoroidopathy in an Autosomal Dominant Pedigree. [JOURNAL ARTICLE]
Retina 2008 July/August; 28(7):1013-1014.
Abstract | Full Citation | | Vitale S, Ellwein L, Cotch MF, et al.
Prevalence of refractive error in the United States, 1999-2004. [Journal Article, Research Support, N.I.H., Intramural, Research Support, U.S. Gov't, P.H.S.]
Arch Ophthalmol 2008 Aug; 126(8):1111-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Grigorenko EL, Han SS, Yrigollen CM, et al.
Macrophage migration inhibitory factor and autism spectrum disorders. [Comparative Study, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Pediatrics 2008 Aug; 122(2):e438-45.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Fontalba A, Fernandez-L A, Garcia-Alegria E, et al.
Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia. [JOURNAL ARTICLE]
BMC Med Genet 2008 Aug 1; 9(1):75.
Abstract | Full Citation | Find Related Articles | | Plon SE, Pirics ML, Nuchtern J, et al.
Multiple tumors in a child with germ-line mutations in TP53 and PTEN. [Case Reports, Letter]
N Engl J Med 2008 Jul 31; 359(5):537-9.
Full Citation | Find Related Articles | | Arnos KS, Welch KO, Tekin M, et al.
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. [Comparative Study, Journal Article, Research Support, N.I.H., Extramural]
Am J Hum Genet 2008 Aug; 83(2):200-7.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Chester J, Rotenstein D, Ringkananont U, et al.
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene. [Journal Article, Research Support, N.I.H., Extramural]
J Pediatr Endocrinol Metab 2008 May; 21(5):479-86.
Abstract | Full Citation | | Miyake N, Chilton J, Psatha M, et al.
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Science 2008 Aug 8; 321(5890):839-43.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Kitiratschky VB, Nagy D, Zabel T, et al.
Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation. [Journal Article, Research Support, Non-U.S. Gov't]
Br J Ophthalmol 2008 Aug; 92(8):1086-91.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Kuliszkiewicz-Janus M, Dereń-Wagemann I, Kasza R, et al.
[Factor VII deficiency--case report] [English Abstract, Journal Article]
Pol Arch Med Wewn 2006 Sep; 116(3):873-5.
Abstract | Full Citation | Find Related Articles |   |
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