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Journal of Human Genetics|February 19, 2024
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB geneEmma Matthews, Ella F Whittle, Faraan Khan, et al.Journal of Human Genetics|August 3, 2023
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism developmentHaobo Li, Zhu Zhang, Yuting Qiu, et al.Journal of Human Genetics|July 31, 2023
Assessment of whole-exome sequencing results in neurogenetic diseasesÖzgür Balasar, Müşerref BaşdemirciJournal of Human Genetics|July 25, 2023
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric casesDong Wu, Yinan Zheng, Ying Li, et al.Journal of Human Genetics|April 7, 2026
Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental DisorderAnil Kumar, Ajay Kumar, Chandraniv Dey, et al.Journal of Human Genetics|March 24, 2026
Interaction between human oxoguanine glycosylase 1 gene polymorphisms and smoking status on nasopharyngeal carcinoma riskFanyu Peng, Ruru Zhang, Rong Yu, et al.Journal of Human Genetics|March 25, 2026
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cellsToru Takagi, Sachiko Miyamoto, Kenji Shimizu, et al.Journal of Human Genetics|May 10, 2024
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delayXiaojie Yin, Qiyu Dong, Shuanglong Fan, et al.Journal of Human Genetics|May 10, 2024
Fundamentals for predicting transcriptional regulations from DNA sequence patternsMasaru Koido, Kohei Tomizuka, Chikashi TeraoJournal of Human Genetics|April 11, 2024
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7Yukiko Kuroda, Takuya Naruto, Yu Tsuyusaki, et al.Pageof 353