Søgeresultater - NAKASHIMA, Mitsuko

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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 af 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

Få fuldtekst Få fuldtekst Få fuldtekst

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome af 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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst