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The Tohoku Journal of Experimental Medicine
|
March 24, 2022
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2
Yuta Narishige, Hisao Yaoita, Moriei Shibuya, et al.
Nature Communications
|
January 12, 2021
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
Jun Takayama, Shu Tadaka, Kenji Yano, et al.
The Tohoku Journal of Experimental Medicine
|
January 24, 2024
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report
Toshiki Inotani, Akira Horaguchi, Yuko Morishita, et al.
Nucleic Acids Research
|
November 12, 2020
jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population
Shu Tadaka, Eiji Hishinuma, Shohei Komaki, et al.
American Journal of Medical Genetics. Part A
|
May 17, 2024
Long-term clinical observation of patients with heterozygous KIF1A variants
Aritomo Kawashima, Kaori Kodama, Yukimune Okubo, et al.
Journal of Bone and Mineral Metabolism
|
December 15, 2022
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27)
Akiko Saito-Hakoda, Atsuo Kikuchi, Tadahisa Takahashi, et al.
Nucleic Acids Research
|
November 6, 2023
jMorp: Japanese Multi-Omics Reference Panel update report 2023
Shu Tadaka, Junko Kawashima, Eiji Hishinuma, et al.
Nature Genetics
|
May 7, 2024
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities
Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, et al.
Nature Communications
|
March 13, 2026
Elucidating genetic backgrounds of myasthenia gravis in Japanese by genome-wide association studies and multi-omics analyses of thymoma
Hiroyuki Ueda, Tomoya Kubota, Risa Goto, et al.
Nature Medicine
|
February 23, 2026
Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes
Go Sato, Yuji Yamamoto, Kyuto Sonehara, et al.
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Search research articles
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Showing results (61-70 of 73) with videos related to
Sort By:
Page
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The Tohoku Journal of Experimental Medicine
|
March 24, 2022
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2
Yuta Narishige, Hisao Yaoita, Moriei Shibuya, et al.
Nature Communications
|
January 12, 2021
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
Jun Takayama, Shu Tadaka, Kenji Yano, et al.
The Tohoku Journal of Experimental Medicine
|
January 24, 2024
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report
Toshiki Inotani, Akira Horaguchi, Yuko Morishita, et al.
Nucleic Acids Research
|
November 12, 2020
jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population
Shu Tadaka, Eiji Hishinuma, Shohei Komaki, et al.
American Journal of Medical Genetics. Part A
|
May 17, 2024
Long-term clinical observation of patients with heterozygous KIF1A variants
Aritomo Kawashima, Kaori Kodama, Yukimune Okubo, et al.
Journal of Bone and Mineral Metabolism
|
December 15, 2022
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27)
Akiko Saito-Hakoda, Atsuo Kikuchi, Tadahisa Takahashi, et al.
Nucleic Acids Research
|
November 6, 2023
jMorp: Japanese Multi-Omics Reference Panel update report 2023
Shu Tadaka, Junko Kawashima, Eiji Hishinuma, et al.
Nature Genetics
|
May 7, 2024
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities
Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, et al.
Nature Communications
|
March 13, 2026
Elucidating genetic backgrounds of myasthenia gravis in Japanese by genome-wide association studies and multi-omics analyses of thymoma
Hiroyuki Ueda, Tomoya Kubota, Risa Goto, et al.
Nature Medicine
|
February 23, 2026
Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes
Go Sato, Yuji Yamamoto, Kyuto Sonehara, et al.
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of 8