J Hum Genet

期刊全称J Hum Genet
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期刊相关文献 (5)

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases

探索远端Xq28重复综合征的遗传模式和临床外显率：来自47例未发表病例的启示

期刊:J Hum Genet
影响因子:2.600
doi:10.1038/s10038-024-01252-7.
Michal Levy ,Eyal Elron ,Mordechai Shohat ,Shira Lifshitz ,Sarit Kahana ,Hagit Shani ,Anat Grossman ,Shirly Amar ,Ginat Narkis ,Lena Sagi-Dain ,Lina Basel-Salmon ,Idit Maya
发表日期：2024
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Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family

汉族家族中新发现的导致吉尔伯特综合征和杜宾-约翰逊综合征的突变同时出现，且临床预后不良

期刊:J Hum Genet
影响因子:2.600
doi:10.1038/s10038-022-01086-1
Tai-Cheng Zhou #,Xiao Li #,Hui Li,Feng-Wei Liu,Si-Hang Zhang,Jing-Hua Fan,Wen-Xiu Yang,Ya-Li Yang,Liang Zhang,Jia Wei
发表日期：2023
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Association of an IGHV3-66 gene variant with Kawasaki disease

IGHV3-66基因变异与川崎病的关联

期刊:J Hum Genet
影响因子:2.600
doi:10.1038/s10038-020-00864-z.
Todd A Johnson #,Yoichi Mashimo #,Jer-Yuarn Wu #,Dankyu Yoon #,Akira Hata,Michiaki Kubo,Atsushi Takahashi,Tatsuhiko Tsunoda,Kouichi Ozaki,Toshihiro Tanaka,Kaoru Ito,Hiroyuki Suzuki,Hiromichi Hamada,Tohru Kobayashi,Toshiro Hara,Chien-Hsiun Chen,Yi-Ching Lee,Yi-Min Liu,Li-Ching Chang,Chun-Ping Chang,Young-Mi Hong,Gi-Young Jang,Sin-Weon Yun,Jeong-Jin Yu,Kyung-Yil Lee,Jae-Jung Kim,Taesung Park
发表日期：2021
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Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4

长读长DNA测序全面表征了一名患有Langer-Giedion综合征和Cornelia de Lange综合征-4的患者的染色体碎裂现象。

期刊:J Hum Genet
影响因子:2.600
doi:10.1038/s10038-020-0754-6
Ming Lei #,Desheng Liang #,Yifeng Yang #,Satomi Mitsuhashi,Kazutaka Katoh,Noriko Miyake,Martin C Frith,Lingqian Wu,Naomichi Matsumoto
发表日期：2020
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Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model

利用iPS细胞模型验证和纠正Seckel综合征相关ATR突变的细胞类型特异性剪接

期刊:J Hum Genet
影响因子:2.600
doi:PMC8075875
Jose Ichisima，Naoya M Suzuki，Bumpei Samata，Tomonari Awaya，Jun Takahashi，Masatoshi Hagiwara，Tatsutoshi Nakahata，Megumu K Saito
细胞生物学
ATR
KEL
发表日期：2019
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