1. Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system. Issue 1 (3rd October 2022) Authors: Yamaguchi, Tomomi; Hayashi, Shujiro; Hayashi, Daisuke; Matsuyama, Takeshi; Koitabashi, Norimichi; Ogiwara, Kenichi; Noda, Masaaki; Nakada, Chiai; Fujiki, Shinya; Furutachi, Akira; Tanabe, Yasuhiko; Yamanaka, Michiko; Ishikawa, Aki; Mizukami, Miyako; Mizuguchi, Asako; Sugiura, Kazumitsu; Sumi, Mak... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Elevation of neuron specific enolase and brain iron deposition on susceptibility‐weighted imaging as diagnostic clues for beta‐propeller protein‐associated neurodegeneration in early childhood: Additional case report and review of the literature. Issue 2 (20th October 2015) Authors: Takano, Kyoko; Shiba, Naoko; Wakui, Keiko; Yamaguchi, Tomomi; Aida, Noriko; Inaba, Yuji; Fukushima, Yoshimitsu; Kosho, Tomoki Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 322 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Gitelman syndrome with transient renal tubular damage in early childhood. Issue 10 (15th July 2021) Authors: Sado, Megumi; Takano, Kyoko; Kurata, Kenji; Kitahara, Masashi Journal: Pediatrics international Issue: Volume 63:Issue 10(2021) Page Start: 1256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Hepatomegaly in a boy with ARID1B‐related Coffin–Siris syndrome. Issue 4 (4th March 2018) Authors: Natsume, Takenori; Takano, Kyoko; Motobayashi, Mitsuo; Kosho, Tomoki Journal: Pediatrics international Issue: Volume 60:Issue 4(2018) Page Start: 378 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis. Issue 7 (21st April 2021) Authors: Hanafusa, Hiroaki; Hidaka, Yoshihiko; Yamaguchi, Tomomi; Shimojo, Hisashi; Tsukahara, Takanori; Murase, Tsubasa; Matsuoka, Daisuke; Chiba, Nao; Shimada, Shun; Morokawa, Hirokazu; Omori, Norio; Minoura, Hironori; Nagano, China; Takano, Kyoko; Nakamura, Katsuya; Wakui, Keiko; Fukushima, Yoshimitsu;... Journal: American journal of medical genetics Issue: Volume 185:Issue 7(2021) Page Start: 2175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN). Issue 9 (September 2020) Authors: Kidokoro, Hiroyuki; Yamamoto, Hiroyuki; Kubota, Tetsuo; Motobayashi, Mitsuo; Miyamoto, Yusaku; Nakata, Tomohiko; Takano, Kyoko; Shiba, Naoko; Okai, Yu; Tanaka, Masaharu; Sakaguchi, Yoko; Maki, Yuki; Kawaguchi, Masahiro; Suzuki, Takeshi; Muramatsu, Kazuhiro; Natsume, Jun Journal: Clinical neurophysiology Issue: Volume 131:Issue 9(2020:Sep.) Page Start: 2100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy. (April 2015) Authors: Higurashi, Norimichi; Takahashi, Yukitoshi; Kashimada, Ayako; Sugawara, Yuji; Sakuma, Hiroshi; Tomonoh, Yuko; Inoue, Takahito; Hoshina, Megumi; Satomi, Ruri; Ohfu, Masaharu; Itomi, Kazuya; Takano, Kyoko; Kirino, Tomoko; Hirose, Shinichi Journal: Seizure Issue: Volume 27(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE. Issue 2 (April 2015) Authors: Wada, Takahito; Takano, Kyoko; Tsurusaki, Yoshinori; Miyake, Noriko; Nakashima, Mitsuko; Saitsu, Hirotomo; Matsumoto, Naomichi; Osaka, Hitoshi Journal: Pediatrics international Issue: Volume 57:Issue 2(2015) Page Start: 324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review. Issue 6 (2nd April 2019) Authors: Yamaguchi, Tomomi; Takano, Kyoko; Inaba, Yuji; Morikawa, Manami; Motobayashi, Mitsuo; Kawamura, Rie; Wakui, Keiko; Nishi, Eriko; Hirabayashi, Shin‐ichi; Fukushima, Yoshimitsu; Kato, Hiroyuki; Takahashi, Jun; Kosho, Tomoki Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 948 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome. Issue 10 (15th May 2020) Authors: Uehara, Masashi; Kosho, Tomoki; Takano, Kyoko; Inaba, Yuji; Kuraishi, Shugo; Ikegami, Shota; Oba, Hiroki; Takizawa, Takashi; Munakata, Ryo; Hatakenaka, Terue; Takahashi, Jun Journal: Spine Issue: Volume 45:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗