檢索結果 - NAKASHIMA, Mitsuko

The Cranial Base Fracture after the Caldwell-Luc Operation 由 Iwao, Atsuhiko, Nakashima, Mitsuko, Yano, Hiroki

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Possible involvement of NEDD4 in keloid formation; its critical role in fibroblast proliferation and collagen production 由 CHUNG, Suyoun, NAKASHIMA, Mitsuko, ZEMBUTSU, Hitoshi, NAKAMURA, Yusuke

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De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences 由 Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo

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A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder 由 Hiraide, Takuya, Watanabe, Seiji, Matsubayashi, Tomoko, Yanagi, Kumiko, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo

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Two novel heterozygous variants in ATP1A3 cause movement disorders 由 Furukawa, Shogo, Miyamoto, Sachiko, Fukumura, Shinobu, Kubota, Kazuo, Taga, Toshiaki, Nakashima, Mitsuko, Saitsu, Hirotomo

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A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3 由 Abe, Kazuo, Ando, Kumiko, Kato, Mitsuhiro, Saitsu, Hirotomo, Nakashima, Mitsuko, Aoki, Shintaro, Kimura, Takashi

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Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder 由 Koshimizu, Eriko, Miyatake, Satoko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

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A recurrent homozygous NHLRC1 variant in siblings with Lafora disease 由 Araya, Nami, Takahashi, Yukitoshi, Shimono, Masayuki, Fukuda, Tomofumi, Kato, Mitsuhiro, Nakashima, Mitsuko, Matsumoto, Naomichi, Saitsu, Hirotomo

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Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant 由 Sugawara, Yuji, Mizuno, Tomoko, Moriyama, Kengo, Ishiwata, Hisako, Kato, Mitsuhiro, Nakashima, Mitsuko, Mizuguchi, Takeshi, Matsumoto, Naomichi

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Retroperitoneal Paraganglioma With Asymptomatic Follicular Lymphoma: A Case Report 由 Kakizawa, Keisuke, Yamashita, Miho, Nakashima, Mitsuko, Kawauchi, Yuto, Ikeya, Akira, Matsushita, Akio, Sasaki, Shigekazu, Oki, Yutaka

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

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Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant 由 Fukuoka, Masataka, Okazaki, Shin, Kim, Kiyohiro, Nukui, Megumi, Inoue, Takeshi, Kuki, Ichiro, Kawawaki, Hisashi, Nakashima, Mitsuko, Matsumoto, Naomichi

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Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review 由 Yamamoto, Akiyo, Fukumura, Shinobu, Habata, Yumi, Miyamoto, Sachiko, Nakashima, Mitsuko, Takashima, Shigeo, Kawasaki, Yukihiko, Shimozawa, Nobuyuki, Saitsu, Hirotomo

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CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant 由 Ikeya, Akira, Nakashima, Mitsuko, Yamashita, Miho, Kakizawa, Keisuke, Okawa, Yuta, Saitsu, Hirotomo, Sasaki, Shigekazu, Sasano, Hironobu, Suda, Takafumi, Oki, Yutaka

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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome 由 Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi

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A novel PITX2 mutation causing iris hypoplasia 由 Kimura, Masashi, Tokita, Yoshihito, Machida, Junichiro, Shibata, Akio, Tatematsu, Tadashi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Nakashima, Mitsuko

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An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family 由 Tatematsu, Tadashi, Kimura, Masashi, Nakashima, Mitsuko, Machida, Junichiro, Yamaguchi, Seishi, Shibata, Akio, Goto, Hiroki, Nakayama, Atsuo, Higashi, Yujiro, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Tokita, Yoshihito

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Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome 由 Imagawa, Eri, Fukai, Ryoko, Behnam, Mahdiyeh, Goyal, Manisha, Nouri, Narges, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Salehi, Mansour, Kapoor, Seema, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi

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A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination 由 Miyamoto, Sachiko, Nakashima, Mitsuko, Ohashi, Tsukasa, Hiraide, Takuya, Kurosawa, Kenji, Yamamoto, Toshiyuki, Takanashi, Junichi, Osaka, Hitoshi, Inoue, Ken, Miyazaki, Takehiro, Wada, Yoshinao, Okamoto, Nobuhiko, Saitsu, Hirotomo

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Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review 由 Arisaka, Atsuko, Nakashima, Mitsuko, Kumada, Satoko, Inoue, Kenji, Nishida, Hiroya, Mashimo, Hideaki, Kashii, Hirofumi, Kato, Mitsuhiro, Maruyama, Koichi, Okumura, Akihisa, Saitsu, Hirotomo, Matsumoto, Naomichi, Fukuda, Mitsumasa

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