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Journal of Human Genetics|October 11, 2023
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologiesNa Hao, Haijuan Lou, Mengmeng Li, et al.Journal of Human Genetics|September 26, 2023
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17Prashant Phulpagar, Vikram V Holla, Deepti Tomar, et al.Journal of Human Genetics|July 21, 2023
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese familiesXin Zhang, Yanzhao Guo, Lu Xu, et al.Journal of Human Genetics|June 29, 2023
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patientsLi Zhang, Li Yu, Xianhong Shu, et al.Journal of Human Genetics|July 5, 2023
Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disordersGuangyu Wang, Wenjing Wu, Xiaoqing Lv, et al.Journal of Human Genetics|January 30, 2019
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cystsPiranit Nik Kantaputra, Yuddhasert Sirirungruangsarn, Pannee Visrutaratna, et al.Journal of Human Genetics|September 9, 2020
Is type 2 diabetes mellitus an inverse risk factor for the development of rheumatoid arthritis?Jun Inamo, Yuta Kochi, Tsutomu TakeuchiJournal of Human Genetics|September 15, 2020
Identification of pleiotropic loci underlying hip bone mineral density and trunk lean massGui-Juan Feng, Xin-Tong Wei, Hong Zhang, et al.Journal of Human Genetics|December 25, 2019
A proposal on the first Japanese practical guidance for the return of individual genomic results in research settingsYayoi Aizawa, Fuji Nagami, Noriko Ohashi, et al.Journal of Human Genetics|January 9, 2020
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian familyCherine Charfeddine, Hamza Dallali, Ghaith Abdessalem, et al.Pageof 353