Kết quả tìm kiếm - NAKASHIMA, Mitsuko
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The Cranial Base Fracture after the Caldwell-Luc Operation Bằng Iwao, Atsuhiko, Nakashima, Mitsuko, Yano, Hiroki
Được phát hành 2015Text -
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De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences Bằng Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo
Được phát hành 2019Text -
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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 Bằng Koshimizu, Eriko, Miyatake, Satoko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Được phát hành 2013Text -
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Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant Bằng Sugawara, Yuji, Mizuno, Tomoko, Moriyama, Kengo, Ishiwata, Hisako, Kato, Mitsuhiro, Nakashima, Mitsuko, Mizuguchi, Takeshi, Matsumoto, Naomichi
Được phát hành 2020Text -
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A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia Bằng Hashiguchi, Marina, Monden, Yukifumi, Nozaki, Yasuyuki, Watanabe, Kazuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamagata, Takanori, Osaka, Hitoshi
Được phát hành 2022Text -
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Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant Bằng Fukuoka, Masataka, Okazaki, Shin, Kim, Kiyohiro, Nukui, Megumi, Inoue, Takeshi, Kuki, Ichiro, Kawawaki, Hisashi, Nakashima, Mitsuko, Matsumoto, Naomichi
Được phát hành 2021Text -
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Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review Bằng Yamamoto, Akiyo, Fukumura, Shinobu, Habata, Yumi, Miyamoto, Sachiko, Nakashima, Mitsuko, Takashima, Shigeo, Kawasaki, Yukihiko, Shimozawa, Nobuyuki, Saitsu, Hirotomo
Được phát hành 2021Text -
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CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant Bằng Ikeya, Akira, Nakashima, Mitsuko, Yamashita, Miho, Kakizawa, Keisuke, Okawa, Yuta, Saitsu, Hirotomo, Sasaki, Shigekazu, Sasano, Hironobu, Suda, Takafumi, Oki, Yutaka
Được phát hành 2020Text -
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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome Bằng Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi
Được phát hành 2017Text -
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A novel PITX2 mutation causing iris hypoplasia Bằng Kimura, Masashi, Tokita, Yoshihito, Machida, Junichiro, Shibata, Akio, Tatematsu, Tadashi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Nakashima, Mitsuko
Được phát hành 2014Text -
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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 Bằng 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
Được phát hành 2015Text -
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Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome Bằng 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
Được phát hành 2015Text -
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A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination Bằng 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
Được phát hành 2019Text -
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Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review Bằng 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
Được phát hành 2020Text