1. A case of early‐onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy. Issue 4 (24th January 2019) Authors: Nakashima, Mitsuko; Negishi, Yutaka; Hori, Ikumi; Hattori, Ayako; Saitoh, Shinji; Saitsu, Hirotomo Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case of tricuspid atresia with Prader‐Willi syndrome. Issue 9 (24th August 2020) Authors: Abe, Jiro; Takeda, Atsuhito; Saitoh, Shinji Journal: Pediatrics international Issue: Volume 62:Issue 9(2020) Page Start: 1105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. Issue 1 (December 2017) Authors: Negishi, Yutaka; Miya, Fuyuki; Hattori, Ayako; Johmura, Yoshikazu; Nakagawa, Motoo; Ando, Naoki; Hori, Ikumi; Togawa, Takao; Aoyama, Kohei; Ohashi, Kei; Fukumura, Shinobu; Mizuno, Seiji; Umemura, Ayako; Kishimoto, Yoko; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanem... Journal: BMC medical genetics Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report. Issue 50 (16th December 2022) Authors: Mizumoto, Keitaro; Kato, Kumiko; Fujinami, Kaoru; Sugita, Tadasu; Sugita, Iichiro; Hattori, Ayako; Saitoh, Shinji; Ueno, Shinji; Tsunoda, Kazushige; Iwata, Takeshi; Kondo, Mineo Journal: Medicine Issue: Volume 101:Issue 50(2022) Page Start: e32161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. Issue 10 (4th August 2017) Authors: Okamoto, Nobuhiko; Tsuchiya, Yuki; Miya, Fuyuki; Tsunoda, Tatsuhiko; Yamashita, Kumiko; Boroevich, Keith A.; Kato, Mitsuhiro; Saitoh, Shinji; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Kitagawa, Daiju Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Acute myocarditis following coronavirus disease 2019 vaccination in a 14‐year‐old Japanese boy. Issue 1 (8th August 2022) Authors: Ishida, Takayuki; Suzuki, Kazutaka; Koyama, Satoshi; Shinohara, Tsutomu; Saitoh, Shinji Journal: Pediatrics international Issue: Volume 64:Issue 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Adverse pregnancy and perinatal outcome in patients with recurrent pregnancy loss: Multiple imputation analyses with propensity score adjustment applied to a large‐scale birth cohort of the Japan Environment and Children's Study. (13th December 2018) Authors: Sugiura‐Ogasawara, Mayumi; Ebara, Takeshi; Yamada, Yasuyuki; Shoji, Naoto; Matsuki, Taro; Kano, Hirohisa; Kurihara, Takahiro; Omori, Toyonori; Tomizawa, Motohiro; Miyata, Maiko; Kamijima, Michihiro; Saitoh, Shinji Journal: American journal of reproductive immunology Issue: Volume 81:Number 1(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Antiviral therapy for hepatitis B virus during second pregnancies. Issue 3 (11th December 2017) Authors: Wakano, Yasuhiro; Sugiura, Tokio; Endo, Takeshi; Ito, Koichi; Suzuki, Mitsuyoshi; Tajiri, Hitoshi; Tanaka, Yasuhito; Saitoh, Shinji Journal: Journal of obstetrics and gynaecology research Issue: Volume 44:Issue 3(2018) Page Start: 566 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Autistic traits of children born very preterm assessed using Autism Diagnostic Observation Schedule, Second Edition. (January 2023) Authors: Nagai, Yukiyo; Mizutani, Yuko; Nomura, Kayo; Uemura, Osamu; Saitoh, Shinji; Iwata, Osuke Journal: Early human development Issue: Volume 176(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. Issue 4 (11th November 2019) Authors: Kato, Kohji; Oka, Yasuyoshi; Muramatsu, Hideki; Vasilev, Filipp F; Otomo, Takanobu; Oishi, Hisashi; Kawano, Yoshihiko; Kidokoro, Hiroyuki; Nakazawa, Yuka; Ogi, Tomoo; Takahashi, Yoshiyuki; Saitoh, Shinji Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗