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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...
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...
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...
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...
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