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  1. 61
    High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics

    High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics by Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita

    Published 2024-12-01
    “…Human Genome Variation…”
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  2. 62
    Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome

    Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome by Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura

    Published 2024-09-01
    “…Human Genome Variation…”
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  3. 63
    Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber’s hereditary optic neuropathy (LHON)

    Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber’s hereditary optic neuropathy (LHON) by Aswathy P. Nair, Ambika Selvakumar, Janani Gopalarethinam, B. Abishek Kumar, Balachandar Vellingiri, Mohana Devi Subramaniam

    Published 2024-01-01
    “…Human Genome Variation…”
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  4. 64
    A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins

    A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins by Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito

    Published 2024-02-01
    “…Human Genome Variation…”
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  5. 65
    Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient

    Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient by Pedro Manzke, Pedro Renato P. Brandão, Talita Balieiro, Diógenes Diego de Carvalho Bispo, Maria Joana Osório, Gustavo Barcelos Barra

    Published 2025-01-01
    “…Human Genome Variation…”
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  6. 66
    Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease

    Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease by Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai

    Published 2024-11-01
    “…Human Genome Variation…”
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  7. 67
    Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

    Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A by Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata

    Published 2024-01-01
    “…Human Genome Variation…”
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  8. 68
    Characteristic craniofacial defects associated with a novel USP9X truncation mutation

    Characteristic craniofacial defects associated with a novel USP9X truncation mutation by Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro

    Published 2024-05-01
    “…Human Genome Variation…”
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  9. 69
    Novel frameshift variant of WNT10A in a Japanese patient with hypodontia

    Novel frameshift variant of WNT10A in a Japanese patient with hypodontia by Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita

    Published 2024-01-01
    “…Human Genome Variation…”
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  10. 70
    Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

    Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX by Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

    Published 2024-08-01
    “…Human Genome Variation…”
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  11. 71
    A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome

    A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome by Hasan Azizi, Mortaza Bonyadi, Abbas Rafat

    Published 2024-03-01
    “…Human Genome Variation…”
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  12. 72
    Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

    Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait by Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

    Published 2024-05-01
    “…Human Genome Variation…”
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  13. 73
    Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing

    Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing by Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

    Published 2024-12-01
    “…Human Genome Variation…”
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  14. 74
    Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion

    Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion by Moritz Otto, Yichen Zheng, Paul Grablowitz, Thomas Wiehe

    Published 2024-09-01
    “…Human Genome Variation…”
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  15. 75
    The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

    The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis by Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda, Masataka Sata

    Published 2024-08-01
    “…Human Genome Variation…”
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  16. 76
    Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

    Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant by Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda, Kazuhiro Satomi

    Published 2024-03-01
    “…Human Genome Variation…”
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  17. 77
    Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

    Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy by Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, NCBN Controls WGS Consortium, Yoshihisa Yamano

    Published 2024-08-01
    “…Human Genome Variation…”
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  18. 78
    Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature

    Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature by Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura

    Published 2024-07-01
    “…Human Genome Variation…”
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  19. 79
    Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant

    Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant by Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Sakata

    Published 2024-12-01
    “…Human Genome Variation…”
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  20. 80
    Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

    Novel variant of FBN2 in a patient with congenital contractual arachnodactyly by Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi

    Published 2024-02-01
    “…Human Genome Variation…”
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