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Human Mutation|September 23, 1998
The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophyM H Ricketts, R D Poretz, P ManowitzHuman Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.Human Mutation|September 23, 1998
A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationshipsC Valentin, H Birgens, C T Craescu, et al.Human Mutation|June 15, 2012
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteriaSofie Symoens, Delfien Syx, Fransiska Malfait, et al.Human Mutation|July 27, 2012
Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and futureLene Juel Rasmussen, Christopher D Heinen, Brigitte Royer-Pokora, et al.Human Mutation|August 15, 2012
Databases for neurogenetics: introduction, overview, and challengesMaría-Jesús Sobrido, Pilar Cacheiro, Angel Carracedo, et al.Human Mutation|July 19, 2012
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) geneLaura Thomas, Mark Richards, Matthew Mort, et al.Human Mutation|July 26, 2012
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaBert Callewaert, Chi-Ting Su, Tim Van Damme, et al.Human Mutation|July 26, 2012
ALX4 gain-of-function mutations in nonsyndromic craniosynostosisGarima Yagnik, Apar Ghuman, Sundon Kim, et al.Human Mutation|July 28, 2012
Correlating multiallelic copy number polymorphisms with disease susceptibilityStuart Cantsilieris, Stefan J WhitePageof 583