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Human Mutation|June 22, 2000
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effectsP Laitinen, H Fodstad, K Piippo, et al.Human Mutation|June 1, 2001
Denaturing high-performance liquid chromatography: A reviewW Xiao, P J OefnerHuman Mutation|June 1, 2001
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophiesE Paloma, A Martínez-Mir, L Vilageliu, et al.Human Mutation|June 1, 2001
Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German populationH Gabriel, P Kupsch, J Sudendey, et al.Human Mutation|November 16, 2019
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertilityAlice Fiévet, Dorine Bellanger, Laila Zahed, et al.Human Mutation|November 16, 2019
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathyAlexandre Janin, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, et al.Human Mutation|November 10, 2019
DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reductionXia Cao, Guoxian Yu, Wei Ren, et al.Human Mutation|December 10, 2019
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular colobomaVijay K Kalaskar, Ramakrishna P Alur, LeeAnn K Li, et al.Human Mutation|November 8, 2019
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathwaysSarah Duerinckx, Valérie Jacquemin, Séverine Drunat, et al.Pageof 583