NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia von Azuma, Nobuyoshi, Uchida, Tetsuro, Kikuchi, Shinsuke, Sadahiro, Mitsuaki, Shintani, Tsunehiro, Yanagi, Kumiko, Higashita, Ryuji, Yamashita, Atsushi, Makita, Yoshio, Kaname, Tadashi

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Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A fami... von Haga, Shunsuke, Takeguchi, Ryo, Tanaka, Ryosuke, Satake, Akira, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru

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MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM von Nohara, Fumikatsu, Tajima, Go, Sasai, Hideo, Makita, Yoshio

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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach von Miyatake, Satoko, Koshimizu, Eriko, Fujita, Atsushi, Fukai, Ryoko, Imagawa, Eri, Ohba, Chihiro, Kuki, Ichiro, Nukui, Megumi, Araki, Atsushi, Makita, Yoshio, Ogata, Tsutomu, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features von Yoneda, Yuriko, Saitsu, Hirotomo, Touyama, Mayumi, Makita, Yoshio, Miyamoto, Akie, Hamada, Keisuke, Kurotaki, Naohiro, Tomita, Hiroaki, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Ogata, Kazuhiro, Naritomi, Kenji, Matsumoto, Naomichi

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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy von Okano, Satomi, Makita, Yoshio, Miyamoto, Akie, Taketazu, Genya, Kimura, Kayano, Fukuda, Ikue, Tanaka, Hajime, Yanagi, Kumiko, Kaname, Tadashi

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Wisconsin syndrome with brain volume laterality: a case report and review of the literature von Okano, Satomi, Makita, Yoshio, Kimura, Kayano, Fukuda, Ikue, Miyamoto, Akie, Tanaka, Hajime

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Novel NARS2 variant causing leigh syndrome with normal lactate levels von Tanaka, Ryosuke, Takeguchi, Ryo, Kuroda, Mami, Suzuki, Nao, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru

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A novel HECW2 variant in an infant with congenital long QT syndrome von Imanishi, Rina, Nakau, Kouichi, Shimada, Sorachi, Oka, Hideharu, Takeguchi, Ryo, Tanaka, Ryosuke, Sugiyama, Tatsutoshi, Nii, Mitsumaro, Okamoto, Toshio, Nagaya, Ken, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru

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

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

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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report von Uchida, Noboru, Ohnishi, Takuma, Kojima, Takuro, Takahashi, Tsutomu, Makita, Yoshio, Fukami, Maki, Shibata, Hironori, Hasegawa, Tomonobu, Ishii, Tomohiro

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

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Molecular Basis of Neonatal Diabetes in Japanese Patients von Suzuki, Shigeru, Makita, Yoshio, Mukai, Tokuo, Matsuo, Kumihiro, Ueda, Osamu, Fujieda, Kenji

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Case Report: A Rare Case of Esophagogastric Junctional Squamous Cell Carcinoma After the Successful Treatment of Neuroendocrine Carcinoma: Clonal Tumor Evolution Revealed by Geneti... von Sato, Hiroki, Saito, Takeshi, Horii, Hiroshi, Kajiura, Mami, Kikuchi, Noriaki, Takada, Nobuhisa, Taguchi, Koichi, Yoshida, Mika, Hasegawa, Masakazu, Taguchi, Hiroyuki, Yoshida, Yukinori, Ando, Katsuyoshi, Fujiya, Mikihiro, Omori, Yuko, Hank, Thomas, Liss, Andrew S., Gala, Manish K., Makita, Yoshio, Ono, Yusuke, Mizukami, Yusuke, Okumura, Toshikatsu

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Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation von Hwang, Su-Kyeong, Makita, Yoshio, Kurahashi, Hirokazu, Cho, Yong-Won, Hirose, Shinichi

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MBTPS2 mutation causes BRESEK/BRESHECK syndrome von Naiki, Misako, Mizuno, Seiji, Yamada, Kenichiro, Yamada, Yasukazu, Kimura, Reiko, Oshiro, Makoto, Okamoto, Nobuhiko, Makita, Yoshio, Seishima, Mariko, Wakamatsu, Nobuaki

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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion von Okamoto, Nana, Hayashi, Shin, Masui, Ayako, Kosaki, Rika, Oguri, Izumi, Hasegawa, Tomoko, Imoto, Issei, Makita, Yoshio, Hata, Akira, Moriyama, Keiji, Inazawa, Johji

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Genitopatellar syndrome: the first reported case in Japan von Okano, Satomi, Miyamoto, Akie, Fukuda, Ikue, Tanaka, Hajime, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Makita, Yoshio

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangemen... von Uehara, Daniela Tiaki, Hayashi, Shin, Okamoto, Nobuhiko, Mizuno, Seiji, Chinen, Yasutsugu, Kosaki, Rika, Kosho, Tomoki, Kurosawa, Kenji, Matsumoto, Hiroshi, Mitsubuchi, Hiroshi, Numabe, Hironao, Saitoh, Shinji, Makita, Yoshio, Hata, Akira, Imoto, Issei, Inazawa, Johji

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