logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
返回期刊详情
Journal of Human Genetics 封面图

Journal of Human Genetics

IF2.5
论文数207
被引数4879
期刊论文 207
发表时间
delete
Neuromuscular junction pathology in amyotrophic lateral sclerosis and emerging molecular therapeutic strategies肌萎缩侧索硬化症中的神经肌肉接头病理学及新兴的分子治疗策略
deleteJournal of Human Genetics
IF2.5
delete2026-10-27
delete0
deleteOAAI
deleteKazuki Okoshi; Yoshitsugu Aoki
delete分享
delete收藏
Genotype–phenotype variability in TRMT10A deficiency: divergent developmental outcomes associated with biallelic loss-of-function variantsTRMT10A缺乏症中的基因型-表型变异性：与双等位基因失活突变相关的不同发育结局
deleteJournal of Human Genetics
IF2.5
delete2026-10-08
delete0
PREAI
deleteZeynep Esener; Dilan Genç-Akdağ; Canberk Toprak; Merve Saltık; Burak Esener; Büşra Yeninarcılar; İbrahim Tekedereli
delete分享
delete收藏
Integrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing利用牛津纳米孔长读长测序技术对进行性肌营养不良症进行整合遗传和表观遗传诊断
deleteJournal of Human Genetics
IF2.5
delete2026-10-05
delete0
PREAI
deleteXinrong Xu; Liangliang Qiu; Minghui Zeng; Qifang He; Xiaodan Lin; Yuhua Lin; Xinyue Chen; Fuze Zheng; Zeling Zheng; Shuhui Zhu; Yali Hong; Feng Lin; Ning Wang; Minting Lin; Zhiqiang Wang
delete分享
delete收藏
MC1R variants in four Chinese children with red hair and hypopigmentation四个具有红发和色素减退的中国儿童中的MC1R变异
deleteJournal of Human Genetics
IF2.5
delete2026-09-30
delete0
PREAI
deleteYingzi Zhang; Qiaorong Huang; Xiaojing Chen; Xuyun Hu; Aihua Wei
delete分享
delete收藏
Uptake of cascade testing and the factors affecting its implementation among patients in Japan with Lynch syndrome林奇综合征患者中分级检测的采用及其影响因素
deleteJournal of Human Genetics
IF2.5
delete2026-09-29
delete0
PREAI
deleteYoshimi Kiyozumi; Hiroyuki Matsubayashi; Nobuhiro Kado; Seiichiro Nishimura; Satomi Higashigawa; Eiko Ishihara; Rina Harada; Yasue Horiuchi
delete分享
delete收藏
Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic reviewDNAJB2基因两个剪接位点变异的表型异质性：来自两个家族和系统综述的见解
deleteJournal of Human Genetics
IF2.5
delete2026-09-28
delete0
PREAI
deleteFatemeh Ghermezcheshmeh; Nazila Malekian; Aida Ghasemi; Fatemeh Barshooi; Shahriar Nafissi; Afagh Alavi
delete分享
delete收藏
Which R2 should be used to benchmark polygenic score performance against heritability?应使用哪个R2来将多基因评分性能与遗传率进行比较？
deleteJournal of Human Genetics
IF2.5
delete2026-09-28
delete0
PREAI
deleteCiaran Michael Kelly
delete分享
delete收藏
Riddle syndrome with RNF168 mutation in first Asian family cluster exhibiting pulmonary fibrosis and achalasia具有RNF168突变的第一个亚洲家族聚集性肺纤维化和贲门失弛缓症患者中的谜题综合征
deleteJournal of Human Genetics
IF2.5
delete2026-09-28
delete0
deleteOAAI
deleteTing-Wei Kao; Jung-Yien Chien; Jo-Yu Chen; Feng-Jung Yang
delete分享
delete收藏
Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis鉴定肌萎缩侧索硬化症中ZFHX3 GGC串联重复扩展的基序组成和等位基因长度分布
deleteJournal of Human Genetics
IF2.5
delete2026-09-15
delete0
deleteOAAI
deleteZoe N. Zussa; Andrew N. Smith; Joke J.F.A van Vugt; Daniel S. O’Shaughnessy; Natalie Grima; Sandrine Chan Moi Fat; Ian P. Blair; Dominic B. Rowe; Roger Pamphlett; Garth A. Nicholson; Matthew C. Kiernan; Wouter van Rheenen; Jan Veldink; Kelly L. Williams; Lyndal Henden
delete分享
delete收藏
Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy一个成年患者中与GlyT1脑病相关的 Novel SLC6A9 变体
deleteJournal of Human Genetics
IF2.5
delete2026-09-11
delete0
deleteOAAI
deleteMark Mencias; Meneka Kanagaratnam; Emma Matthews
delete分享
delete收藏
Non-coding repeat expansions within NOTCH2NLC and RFC1 genes contribute to unsolved inherited peripheral neuropathiesNOTCH2NLC和RFC1基因中的非编码重复扩展对未解决的遗传性周围神经病的贡献
deleteJournal of Human Genetics
IF2.5
delete2026-09-10
delete0
PREAI
deleteXin-Yun Zhang; Hao Yu; Gong-Lu Liu; Zhi-Ying Wu; Hai-Lin Dong
delete分享
delete收藏
Osteoporosis genetic risk prediction using bone mineral density polygenic scores in Japanese: TMM CommCohort study日本人骨密度多基因评分预测骨质疏松遗传风险：TMM CommCohort研究
deleteJournal of Human Genetics
IF2.5
delete2026-09-09
delete0
PREAI
deleteYayoi Otsuka-Yamasaki; Yoichi Sutoh; Tsuyoshi Hachiya; Motoki Nakao; Shiori Minabe; Shohei Komaki; Hideki Ohmomo; Makoto Sasaki; Atsushi Shimizu
delete分享
delete收藏
Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort拓宽Okur-Chung综合征表型：土耳其多中心队列中的成人发病代谢特征及连续20p13缺失
deleteJournal of Human Genetics
IF2.5
delete2026-09-08
delete0
PREAI
deleteÇağrı Doğan; Alper Gezdirici; Hatice Özışık; Samim Özen; Ayça Aykut; Asude Durmaz; Elif Yılmaz Güleç; Mukaddes Feyza Baltacı; Eyyüp Üçtepe; Serdar Ceylaner; Mustafa Tarık Alay; İrem Kalay; Kübra Ateş; Mehmet Burak Mutlu
delete分享
delete收藏
Biallelic nonsense variants in GAS8 associated with asthenoteratozoospermia and PCD-like symptomsGAS8基因的双等位基因无义变异与弱畸形精子症和PCD样症状的关联
deleteJournal of Human Genetics
IF2.5
delete2026-09-04
delete0
PREAI
deleteMingjia Zhao; Shuyu Guo; Lanxi Ran; Yue Meng; Yijia Zhao; Jing Wang; Binbin Wang
delete分享
delete收藏
Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome超越体外预测：多组学方法鉴定Au-Kline综合征中一种致病的深部内含子HNRNPK变异
deleteJournal of Human Genetics
IF2.5
delete2026-09-04
delete0
deleteOAAI
deleteZ. Kowalzyk; J. Porrmann; P.Y.B. Au; S. Choufani; R. Weksberg; K. Hackmann; A. Kübler; A. Kögler; N. S. Lewis; A. Köhler; J. Wagner; M. Bermudez; C. Hübner; J. Schallner; R. Jauss; C. Vogelberg; B. Mayer; N. Di Donato; E. Schröck; D. Le Duc; A. Jahn
delete分享
delete收藏
THE1 repeats: Ancient endogenous retroviruses rampaging behind sarcoid myopathyTHE1重复序列：古老内源性逆转录病毒在肉芽肿性肌病背后的肆虐
deleteJournal of Human Genetics
IF2.5
delete2026-09-03
delete0
PREAI
deleteAritoshi Iida; Shunsuke Funaguma; Ichizo Nishino
delete分享
delete收藏
Cross-biobank comparison of ASCVD heritability and genetic correlation跨生物库对比ASCVD遗传率和遗传相关性
deleteJournal of Human Genetics
IF2.5
delete2026-08-28
delete0
deleteOAAI
deleteHari B. Acharya; Samuel S. Gidding; Matthew T. Oetjens; Alexander S. F. Berry
delete分享
delete收藏
Systematic genotype–phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22–q23 deletions系统性的基因型-表型映射和转录组学分析突出了SEMA6A作为5q22-q23缺失中神经元迁移缺陷的候选基因
deleteJournal of Human Genetics
IF2.5
delete2026-08-27
delete0
PREAI
deleteKengo Kora; Takeshi Yoshida; Atsuko Ikegawa; Kiyohiro Kim; Shu Hamada; Toshiro Maihara; Takahito Wada
delete分享
delete收藏
Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies鉴定与表征一种与严重轴性肌张力低下、癫痫和心脏畸形相关的新型纯合KDM5A变异
deleteJournal of Human Genetics
IF2.5
delete2026-08-19
delete0
deleteOAAI
deleteSerdar Bozlak; Cuneyd Yavas; Yusuf Seflekci; Tunay Dogan; Yunus Emre Arvas
delete分享
delete收藏
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32四例无血缘关系的常染色体隐性遗传脊髓小脑共济失调32型日本患者的临床特征
deleteJournal of Human Genetics
IF2.5
delete2026-08-18
delete0
PREAI
deleteHiromi Fukuda; Hiroshi Doi; Shunsuke Ogata; Eriko Koshimizu; Kohei Hamanaka; Satoko Miyatake; Yuichi Higashiyama; Yosuke Kudo; Rumiko Kato; Takamasa Nukui; Kazuki Yamada; Shinichi Shirai; Ichiro Yabe; Naomichi Matsumoto; Fumiaki Tanaka
delete分享
delete收藏