Journal of Human Genetics, official journal of the Japan Society of Human Genetics, publishes original articles and reviews on all aspects of human genetics, including medical genetics and genomics.
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Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases

Journal of Human Genetics, Published online: 18 April 2024; doi:10.1038/s10038-024-01252-7Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases

Thu Apr 18, 2024 09:37
Role of <i>TOE1</i> variants at the nuclear localization motif in pontocerebellar hypoplasia 7

Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s10038-024-01244-7Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7

Thu Apr 11, 2024 17:27
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

Journal of Human Genetics, Published online: 08 April 2024; doi:10.1038/s10038-024-01250-9Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

Mon Apr 8, 2024 14:38
Heritability of complex traits in sub-populations experiencing bottlenecks and growth

Journal of Human Genetics, Published online: 08 April 2024; doi:10.1038/s10038-024-01249-2Heritability of complex traits in sub-populations experiencing bottlenecks and growth

Mon Apr 8, 2024 14:38
Identification of a novel <i>LFNG</i> variant in a Chinese fetus with spondylocostal dysostosis and a systematic review

Journal of Human Genetics, Published online: 02 April 2024; doi:10.1038/s10038-024-01248-3Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review

Tue Apr 2, 2024 15:11
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in <i>TMEM260</i>, in the Japanese population

Journal of Human Genetics, Published online: 29 March 2024; doi:10.1038/s10038-024-01245-6Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Fri Mar 29, 2024 08:28

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