Growth Inhibition of Cultured Human Liver Carcinoma Cells by Ki-energy (Life-energy): Scientific Evidence for Ki-effects on Cancer Cells

par Ohnishi, S. Tsuyoshi, Ohnishi, Tomoko, Nishino, Kozo, Tsurusaki, Yoshinori, Yamaguchi, Masayoshi
Publié 2005

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

par Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kurosawa, Kenji
Publié dans Hum Genome Var (2018)

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

par Akahira-Azuma, Moe, Tsurusaki, Yoshinori, Enomoto, Yumi, Mitsui, Jun, Kurosawa, Kenji
Publié dans Hum Genome Var (2018)

TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia

par Komatsu, Yumiko, Suzuki, Toshifumi, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yan, Kunimasa
Publié dans CEN Case Rep (2016)

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

par Tsurusaki, Yoshinori, Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Aida, Noriko, Kurosawa, Kenji
Publié dans Hum Genome Var (2017)

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

par Koshimizu, Eriko, Miyatake, Satoko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Publié 2013

‘Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

par Yoshida, Kunihiro, Miyatake, Satoko, Kinoshita, Tomomi, Doi, Hiroshi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Publié dans J Hum Genet (2014)

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

par Hayashi, Shion, Yokoi, Takayuki, Hatano, Chihiro, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kobayashi, Masahisa, Ida, Hiroyuki, Kurosawa, Kenji
Publié dans Hum Genome Var (2018)

A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4

par Enomoto, Yumi, Tsurusaki, Yoshinori, Tominaga, Makiko, Kobayashi, Shinji, Inoue, Maki, Fujita, Kazutoshi, Kumaki, Tatsuro, Murakami, Hiroaki, Kurosawa, Kenji
Publié dans Mol Syndromol (2021)

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

par Sato, Yota, Shibasaki, Jun, Aida, Noriko, Hiiragi, Kazuya, Kimura, Yuichi, Akahira-Azuma, Moe, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji
Publié dans Hum Genome Var (2018)

Discordant phenotype caused by CASK mutation in siblings with NF1

par Murakami, Hiroaki, Kimura, Yuichi, Enomoto, Yumi, Tsurusaki, Yoshinori, Akahira-Azuma, Moe, Kuroda, Yukiko, Tsuji, Megumi, Goto, Tomohide, Kurosawa, Kenji
Publié dans Hum Genome Var (2019)

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

par Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Publié dans Hum Genome Var (2019)

Novel USP9X variants in two patients with X-linked intellectual disability

par Tsurusaki, Yoshinori, Kuroda, Yukiko, Yamanouchi, Yasuko, Kondo, Eisuke, Ouchi, Kazunobu, Kimura, Yuichi, Enomoto, Yumi, Aida, Noriko, Masuno, Mitsuo, Kurosawa, Kenji
Publié dans Hum Genome Var (2019)

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

par Takizaki, Nao, Tsurusaki, Yoshinori, Katsumata, Kaoru, Enomoto, Yumi, Murakami, Hiroaki, Muroya, Koji, Ishikawa, Hiroshi, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Publié dans Hum Genome Var (2020)

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

par Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi
Publié dans J Hum Genet (2017)

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

par Yoneda, Yuriko, Haginoya, Kazuhiro, Arai, Hiroshi, Yamaoka, Shigeo, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Yokochi, Kenji, Osaka, Hitoshi, Kato, Mitsuhiro, Matsumoto, Naomichi, Saitsu, Hirotomo
Publié 2012

A novel PITX2 mutation causing iris hypoplasia

par Kimura, Masashi, Tokita, Yoshihito, Machida, Junichiro, Shibata, Akio, Tatematsu, Tadashi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Nakashima, Mitsuko
Publié dans Hum Genome Var (2014)

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

par 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
Publié dans Hum Genome Var (2015)

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing

par Kondo, Yukiko, Saitsu, Hirotomo, Miyamoto, Toshinobu, Lee, Byung Joo, Nishiyama, Kiyomi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Kim, Jeong Hun, Yu, Young Suk, Matsumoto, Naomichi
Publié 2013

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

par Liu, Xiaoxi, Kawashima, Minae, Miyagawa, Taku, Otowa, Takeshi, Latt, Khun Zaw, Thiri, Myo, Nishida, Hisami, Sugiyama, Toshiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Mabuchi, Akihiko, Tokunaga, Katsushi, Sasaki, Tsukasa
Publié dans Hum Genome Var (2015)