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Human Mutation|January 1, 1995
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite JewsJ Zlotogora, G Bach, C Bösenberg, et al.Human Mutation|October 21, 2009
Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disordersIan M Carr, Katarzyna Szymanska, Eamonn Sheridan, et al.Human Mutation|October 23, 2009
Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer casesIrene Catucci, Rongxi Yang, Paolo Verderio, et al.Human Mutation|October 29, 2009
The genetic basis of long QT and short QT syndromes: a mutation updatePaula L Hedley, Poul Jørgensen, Sarah Schlamowitz, et al.Human Mutation|October 29, 2009
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharidesMicha A Haeuptle, Thierry HennetHuman Mutation|January 1, 1994
Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosisA Morrone, H Morreau, X Y Zhou, et al.Human Mutation|January 1, 1997
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genesB Thöny, N BlauHuman Mutation|January 1, 1997
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian familiesT Oppliger, B Thöny, C Kluge, et al.Human Mutation|January 1, 1997
An expanded histatin gene polymorphism and test of a possible disease resistant phenotypeM Araki, N M Anstey, E D Mwaikambo, et al.Human Mutation|January 1, 1994
New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell linesI Banchs, A Bosch, J Guimerà, et al.Pageof 583