Search Results - NAKASHIMA, Mitsuko

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  1. 1
    The Cranial Base Fracture after the Caldwell-Luc Operation

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

    Published 2015
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  2. 2
    Possible involvement of NEDD4 in keloid formation; its critical role in fibroblast proliferation and collagen production

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

    Published 2011
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  3. 3
    De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

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

    Published 2019
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  4. 4
    A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

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

    Published 2020
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  5. 5
    Two novel heterozygous variants in ATP1A3 cause movement disorders

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

    Published 2022
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  6. 6
    A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3

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

    Published 2022
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  7. 7
    Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

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

    Published 2013
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  8. 8
    A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

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

    Published 2018
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  9. 9
    Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

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

    Published 2020
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  10. 10
    Retroperitoneal Paraganglioma With Asymptomatic Follicular Lymphoma: A Case Report

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

    Published 2021
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  11. 11
    A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

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

    Published 2022
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  12. 12
    Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant

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

    Published 2021
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  13. 13
    Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review

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

    Published 2021
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  14. 14
    CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant

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

    Published 2020
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  15. 15
    ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

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

    Published 2017
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  16. 16
    A novel PITX2 mutation causing iris hypoplasia

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

    Published 2014
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  17. 17
    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

    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 by 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

    Published 2015
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  18. 18
    Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

    Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome by 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

    Published 2015
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  19. 19
    A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

    A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination by 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

    Published 2019
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  20. 20
    Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

    Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review by 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

    Published 2020
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