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Journal of Human Genetics|October 16, 2024
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findingsGhada M H Abdel-Salam, Asmaa Esmail, Dina Nagy, et al.Journal of Human Genetics|September 25, 2024
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese populationYutaro Yanagida, Izumi Naka, Yutaka Nakachi, et al.Journal of Human Genetics|February 26, 2025
Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature reviewJessie Poquérusse, Whitney Whitford, Juliet Taylor, et al.Journal of Human Genetics|February 25, 2025
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeDohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, et al.Journal of Human Genetics|August 18, 2024
A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese familyQi Fang, Lanxi Ran, Xinying Bi, et al.Journal of Human Genetics|August 20, 2024
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution modelYoshiro NagaoJournal of Human Genetics|August 16, 2024
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and KoreaRyotaro Hashizume, Yifei Xu, Makoto Ikejiri, et al.Journal of Human Genetics|October 6, 2005
Human mtDNA hypervariable regions, HVR I and II, hint at deep common maternal founder and subsequent maternal gene flow in Indian population groupsSwarkar Sharma, Anjana Saha, Ekta Rai, et al.Journal of Human Genetics|April 12, 2006
No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese populationParvaneh Keshavarz, Hiroshi Inoue, Yukiko Sakamoto, et al.Journal of Human Genetics|April 4, 2006
Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from SwanetiaMiguel A Alfonso-Sánchez, Cristina Martínez-Bouzas, Azucena Castro, et al.Pageof 353