Within the last year
Within the past 3 years
1 - 10 of 16 articles
Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.Clin Genet 2008: 74: 213–222. © Blackwell Munksgaard, 2008The neuronal ceroid...
Di Leo E, Magnolo L, Bertolotti M, Bourbon M, Carmo Pereira S, Pirisi M, Calandra S, Tarugi P. Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations.Clin Genet 2008: 74: 267–273. © Blackwell Munksgaard, 2008Homozygous familial...
Kruer MC, Steiner RD. The role of evidence-based medicine and clinical trials in rare genetic disorders.Clin Genet 2008: 74: 197–207. © Blackwell Munksgaard, 2008The drive to empirically evaluate and analyze tools for the screening, diagnosis, management and monitoring of disease captured by...
Lexner MO, Bardow A, Juncker I, Jensen LG, Almer L, Kreiborg S, Hertz JM. X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.Clin Genet 2008: 74: 252–259. © Blackwell Munksgaard, 2008This study aimed to investigate genotype and...
Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H. A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot–Marie–Tooth disease in an Amish family.Clin Genet 2008: 74: 274–278. © Blackwell Munksgaard, 2008Charcot–Marie–Tooth disease (CMT) constitutes a large...
Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G, Concolino D, Strisciuglio P, Feriozzi S, Di Vito R, Ravaglia R, Ricci R, Morrone A. Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz...
Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJH, Van Camp G. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at...
Read and print from thousands of top scholarly journals.
Sign up with Facebook
Sign up with Google
Already have an account? Log in
Save this article to read later. You can see your Read Later on your DeepDyve homepage.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Sign Up Log In
To subscribe to email alerts, please log in first, or sign up for a DeepDyve account if you don’t already have one.
To get new article updates from a journal on your personalized homepage, please log in first, or sign up for a DeepDyve account if you don’t already have one.