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Human Mutation|January 13, 2018
Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophiesKumari Alka, Joseph R CaseyHuman Mutation|December 29, 2017
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspectsAyman W El-Hattab, Julia Wang, Hongzheng Dai, et al.Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.Human Mutation|December 23, 2017
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small moleculesNesrine Baatallah, Sara Bitam, Natacha Martin, et al.Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.Human Mutation|November 7, 2017
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromesTakayasu Mori, Matthew J Yousefzadeh, Maryam Faridounnia, et al.Human Mutation|December 18, 2018
New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosisGeorgios Pampalakis, Konstantinos Mitropoulos, Georgia Xiromerisiou, et al.Human Mutation|December 18, 2018
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activatorsDong Hoon Shin, Jinsei Jung, Young Ik Koh, et al.Human Mutation|October 28, 2006
Deletion of the parkin and PACRG gene promoter in early-onset parkinsonismSuzanne Lesage, Periquet Magali, Ebba Lohmann, et al.Human Mutation|November 17, 2006
Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometryEva Gross, Georg Hölzl, Norbert Arnold, et al.Pageof 581