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Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.Human Mutation|June 17, 2018
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtypeRichard T Wang, Florian Barthelemy, Ann S Martin, et al.Human Mutation|July 12, 2018
A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channelDebora Baroni, Cristiana Picco, Oscar MoranHuman Mutation|June 20, 2018
Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosisYanhan Deng, Zongzhe Li, Juan Liu, et al.Human Mutation|April 25, 2019
Heterozygosity mapping for human dominant trait variantsAtsuko Imai-Okazaki, Yi Li, Sukanya Horpaopan, et al.Human Mutation|November 25, 2003
CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-time PCRElke Schaeffeler, Matthias Schwab, Michel Eichelbaum, et al.Human Mutation|October 1, 2003
Molecular pathology of NEU1 gene in sialidosisVolkan Seyrantepe, Helena Poupetova, Roseline Froissart, et al.Human Mutation|October 1, 2003
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)Barry Eng, Lisa N Nakamura, Natasha O'Reilly, et al.Human Mutation|October 1, 2003
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC familiesG Isidro, S Matos, V Gonçalves, et al.Human Mutation|September 5, 2003
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1Walter D Park, John F O'Brien, Patrick A Lundquist, et al.Pageof 583