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Human Mutation|August 24, 2005
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIAKyung Hoon Paik, Seng Mi Song, Chang Seok Ki, et al.
Human Mutation|September 20, 2005
Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assayEmma L Northrop, Hua Ren, Damien L Bruno, et al.
Human Mutation|November 13, 2007
An XML-based interchange format for genotype-phenotype dataM Whirl-Carrillo, M Woon, C F Thorn, et al.
Human Mutation|November 13, 2007
Genomewide SNP assay reveals mutations underlying Parkinson diseaseJavier Simon-Sanchez, Sonja Scholz, Maria del Mar Matarin, et al.
Human Mutation|August 19, 2007
Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?Olga Anczuków, Mark D Ware, Monique Buisson, et al.
Human Mutation|August 21, 2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al.
Human Mutation|August 9, 2007
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replicationCampbell R Sheen, Ursula R Jewell, Christine M Morris, et al.
Human Mutation|August 4, 2007
Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypesS Ennis, A Murray, G Brightwell, et al.
Human Mutation|November 23, 2007
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancerRebecca A Barnetson, Nicola Cartwright, Annelot van Vliet, et al.
Human Mutation|November 23, 2007
Detailed analysis of 22q11.2 with a high density MLPA probe setG R Jalali, J A S Vorstman, Ab Errami, et al.
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