Showing 1 - 20 results of 133 for search '"Human Genome Variation"', query time: 0.18s Refine Results
  1. 1
    Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

    Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability by Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura

    Published 2024-03-01
    “…Human Genome Variation…”
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  2. 2
    BARD1 deletion in a patient with suspected hereditary colorectal cancer

    BARD1 deletion in a patient with suspected hereditary colorectal cancer by Nobue Takaiso, Issei Imoto, Akiyo Yoshimura, Akira Ouchi, Koji Komori, Hiroji Iwata, Yasuhiro Shimizu

    Published 2024-03-01
    “…Human Genome Variation…”
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  3. 3
    A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

    A recurrent synonymous L1CAM variant in a fetus with hydrocephalus by Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová

    Published 2024-01-01
    “…Human Genome Variation…”
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  4. 4
    Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome

    Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome by Hiroki Sato, Kenichi Suga, Masashi Suzue, Yukako Honma, Yasunobu Hayabuchi, Shunsuke Miyai, Hiroki Kurahashi, Ryuji Nakagawa

    Published 2022-05-01
    “…Human Genome Variation…”
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  5. 5
    Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data

    Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data by Shunichi Kosugi, Chikashi Terao

    Published 2024-04-01
    “…Human Genome Variation…”
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  6. 6
    Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

    Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome by Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok-Hwa Kim, Tae-Joon Cho

    Published 2021-05-01
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  7. 7
    Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals

    Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals by Jumpei Yamamoto, Masaya Yamamoto, Kozue Takano, Toru Okazaki, Reiko Arakawa, Hisao Hara, Atsuko Okazaki, Fumihiko Takeuchi, Yukio Hiroi, Norihiro Kato

    Published 2021-03-01
    “…Human Genome Variation…”
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  8. 8
    Oculofaciocardiodental syndrome caused by a novel BCOR variant

    Oculofaciocardiodental syndrome caused by a novel BCOR variant by Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto

    Published 2023-06-01
    “…Human Genome Variation…”
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  9. 9
    A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report

    A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report by Jamal Manoochehri, Seyed Alireza Dastgheib, Hossein Jafari Khamirani, Maryam Mollaie, Zahra Sharifi, Sina Zoghi, Seyed Mohammad Bagher Tabei, Sanaz Mohammadi, Fatemeh Dehghanian, Zahra Farbod, Mehdi Dianatpour

    Published 2021-08-01
    “…Human Genome Variation…”
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  10. 10
    The ATRX splicing variant c.21-1G>A is asymptomatic

    The ATRX splicing variant c.21-1G>A is asymptomatic by Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F. Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata

    Published 2022-09-01
    “…Human Genome Variation…”
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  11. 11
    Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

    Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants by Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda, Satori Hirai, Tomohiro Chiyonobu, Naoko Yano, Takahiro Hayashi, Takeshi Yoshida, Tomoko Iehara

    Published 2023-08-01
    “…Human Genome Variation…”
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  12. 12
    Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

    Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease by Keiko Yamamoto-Shimojima, Hiroyuki Akagawa, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Toshiyuki Yamamoto

    Published 2021-04-01
    “…Human Genome Variation…”
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  13. 13
    A Japanese family with dystonia due to a pathogenic variant in SGCE

    A Japanese family with dystonia due to a pathogenic variant in SGCE by Takuya Morikawa, Shiroh Miura, Luoming Fan, Emina Watanabe, Ryuta Fujioka, Hiromichi Motooka, Shingo Yasumoto, Yusuke Uchiyama, Hiroki Shibata

    Published 2022-08-01
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  14. 14
    A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

    A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia by Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka

    Published 2022-06-01
    “…Human Genome Variation…”
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  15. 15
    Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

    Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants by Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue

    Published 2024-03-01
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  16. 16
    Online tools for efficient paper writing

    Online tools for efficient paper writing by Yasunori Yamamoto, Toyofumi Fujiwara

    Published 2022-06-01
    “…Human Genome Variation…”
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  17. 17
    Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

    Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform by Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Xiaoming Wei

    Published 2023-05-01
    “…Human Genome Variation…”
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  18. 18
    A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

    A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency by Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka

    Published 2024-03-01
    “…Human Genome Variation…”
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  19. 19
    Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients

    Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients by Fiona Freyberger, Tomislav Kokotović, Goran Krnjak, Sanda Huljev Frković, Vanja Nagy

    Published 2021-09-01
    “…Human Genome Variation…”
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  20. 20
    Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes

    Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes by Jerzy K. Kulski, Shingo Suzuki, Takashi Shiina

    Published 2022-12-01
    “…Human Genome Variation…”
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