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Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations 6

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Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations 6
デジタル博士論文障害者向け資料あり
宮道, 大督Nature Publishing Group2019-06-27Human genome variation
国立国会図書館

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism 4

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Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism 4
デジタル博士論文障害者向け資料あり
佐藤, 智生日本人類遺伝学会2018-09-20Human Genome Variation
国立国会図書館

End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy

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デジタル記事
花房, 宏昭, 山口, 宏, Morisada, Naoya, YE, Ming Juan, 松本, 理器, 永瀬, 裕朗, 野津, 寛大Springer Nature2024-03-28Human Genome Variation11 1p.17-
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A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

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デジタル記事
Nakatani, Naoko, 田村, 彰広, 花房, 宏昭, 二野, 菜々子, 山本, 暢之, 粟野, 宏之, Tanaka, Yasuhiro, Morisada, Naoya, 植村, 優, Saito, Atsuro, Hasegawa, Daiichiro, 野津, 寛大, Kosaka, YoshiyukiSpringer Nature2024-03-22Human Genome Variation11 1p.15-
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Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome

Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome
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2022-05-17Human Genome Variation9p.15-
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Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome

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デジタル記事
Sato, Hiroki, Suga, Kenichi, Suzue, Masashi, Honma, Yukako, Hayabuchi, Yasunobu, Miyai, Shunsuke, Kurahashi, Hiroki, Nakagawa, RyujiSpringer Nature2022-05-17Human Genome Variation9p.15-
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A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

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デジタル記事
Muto, Kohei, Miyamoto, Ryosuke, Terasawa, Yuka, Shimatani, Yoshimitsu, Hara, Keijiro, Kakimoto, Takumi, Fukumoto, Tatsuya, Osaki, Yusuke, Fujita, Koji, Harada, Masafumi, Uehara, Hisanori, Takagi, Yasushi, Izumi, YuishinSpringer Nature2021-05-14Human Genome Variation8p.18-
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A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma
記事
2021-05-14Human Genome Variation8p.18-
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A pediatric case of productive cough caused by novel variants in DNAH9

A pediatric case of productive cough caused by novel variants in DNAH9
デジタル記事
2021-01-15Human Genome Variation8p.3-
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A pediatric case of productive cough caused by novel variants in DNAH9

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デジタル記事
Takeuchi, Kazuhiko, Xu, Yifei, Ogawa, Satoru, Ikejiri, Makoto, Nakatani, Kaname, Gotoh, Shimpei, Usui, Satoko, Masuda, Sawako, Nagao, Mizuho, Fujisawa, TakaoSpringer Nature2021-01-15Human Genome Variation8
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A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy

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デジタル記事
Shishido, Ayumi, 森貞, 直哉, Tominaga, Kenta, Uemura, Hiroyasu, Haruna, Akiko, Hanafusa, Hiroaki, 野津, 寛大, 飯島, 一誠Springer Nature2020-08-17Human Genome Variation7 1p.23-23
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Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome

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デジタル記事
Osumi, Keita, Suga, Kenichi, Ono, Akemi, Goji, Aya, Mori, Tatsuo, Kinoshita, Yukiko, Sugano, Mikio, Toda, Yoshihiro, Urushihara, Maki, Nakagawa, Ryuji, Hayabuchi, Yasunobu, Imoto, Issei, Kagami, ShojiSpringer Nature2020-07-16Human Genome Variation7p.21-
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Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome

Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
デジタル記事
2020-07-16Human Genome Variation7p.21-
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A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data

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デジタル記事
Chinen, Yasutsugu, Yanagi, Kumiko, Nakamura, Sadao, Nakayama, Noriko, Kamiya, Motoko, Nakayashiro, Mami, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, KoichiSpringer Nature2020-04-16Human Genome Variation7
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A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data
デジタル記事
2020-04-16Human Genome Variation7
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Novel ARX mutation identified in infantile spasm syndrome patient

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デジタル記事
大戸, 達之, 福島, 紘子, Takeshita, Yohei, Enokizono, Takashi, Tanaka, Mai, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshipublisher2020-03Human Genome Variation7p.9-
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Novel ARX mutation identified in infantile spasm syndrome patient

Novel ARX mutation identified in infantile spasm syndrome patient
デジタル記事
2020-03Human Genome Variation7p.9-
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KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
デジタル記事
2019-12-13Human Genome Variation6 1p.54-
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KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

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デジタル記事
Hamaguchi, Yo, Aoki, Mikihiro, Watanabe, Satoshi, Mishima, Hiroyuki, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, SumitoSpringer Nature2019-12-13Human Genome Variation6 1p.54-
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MGeND: an integrated database for Japanese clinical and genomic information

MGeND: an integrated database for Japanese clinical and genomic information
デジタル記事
2019-12-06Human Genome Variation6 1p.53-
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  • 掲載誌（ISSN）2054345X