1. A 590 kb deletion caused by non‐allelic homologous recombination between two LINE‐1 elements in a patient with mesomelia‐synostosis syndrome. Issue 4 (22nd March 2017) Authors: Kohmoto, Tomohiro; Naruto, Takuya; Watanabe, Miki; Fujita, Yuji; Ujiro, Sae; Okamoto, Nana; Horikawa, Hideaki; Masuda, Kiyoshi; Imoto, Issei Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1082 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case of sex-discordant monochorionic diamnionic twins due to spontaneous pregnancy. (October 2016) Authors: Hichijo, Atsuko; Kaji, Takashi; Yonetani, Naoto; Nakagawa, Ryuji; Imoto, Issei Journal: Placenta Issue: Volume 46(2016:Oct.) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. Issue 6 (8th July 2015) Authors: Kawarai, Toshitaka; Tajima, Atsushi; Kuroda, Yukiko; Saji, Naoki; Orlacchio, Antonio; Terasawa, Hideo; Shimizu, Hirotaka; Kita, Yasushi; Izumi, Yuishin; Mitsui, Takao; Imoto, Issei; Kaji, Ryuji Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 6(2016) Page Start: 656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation. Issue 3 (17th January 2018) Authors: Tokaji, Narumi; Ito, Hiromichi; Kohmoto, Tomohiro; Naruto, Takuya; Takahashi, Rizu; Goji, Aya; Mori, Tatsuo; Toda, Yoshihiro; Saito, Masako; Tange, Shoichiro; Masuda, Kiyoshi; Kagami, Shoji; Imoto, Issei Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A unique TBX5 microdeletion with microinsertion detected in patient with Holt–Oram syndrome. (28th September 2015) Authors: Morine, Mikio; Kohmoto, Tomohiro; Masuda, Kiyoshi; Inagaki, Hidehito; Watanabe, Miki; Naruto, Takuya; Kurahashi, Hiroki; Maeda, Kazuhisa; Imoto, Issei Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study. Issue 4 (7th March 2022) Authors: Kasugai, Yumiko; Kohmoto, Tomohiro; Taniyama, Yukari; Koyanagi, Yuriko N.; Usui, Yoshiaki; Iwase, Madoka; Oze, Isao; Yamaguchi, Rui; Ito, Hidemi; Imoto, Issei; Matsuo, Keitaro Journal: Cancer science Issue: Volume 113:Issue 4(2022) Page Start: 1451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Case of non‐mosaic trisomy 20 in amniotic fluid cultures without anomalies in the fetus: Cytogenetic discrepancy between amniocytes and fetal blood. Issue 1 (28th August 2014) Authors: Maeda, Kazuhisa; Imoto, Issei; Kaji, Takashi; Yoshida, Yukiko; Nakayama, Soichiro; Irahara, Minoru Journal: Journal of obstetrics and gynaecology research Issue: Volume 41:Issue 1(2015:Jan.) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cumulative effect of the plasma total homocysteine-related genetic variants on schizophrenia risk. (30th December 2016) Authors: Kinoshita, Makoto; Numata, Shusuke; Tajima, Atsushi; Nishi, Akira; Muraki, Sho; Tsuchiya, Atsushi; Umehara, Hidehiro; Watanabe, Shin-ya; Imoto, Issei; Ohmori, Tetsuro Journal: Psychiatry research Issue: Volume 246(2016) Page Start: 833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Diagnosis and Prognostication of Ductal Adenocarcinomas of the Pancreas Based on Genome-Wide DNA Methylation Profiling by Bacterial Artificial Chromosome Array-Based Methylated CpG Island Amplification. (21st December 2010) Authors: Gotoh, Masahiro; Arai, Eri; Wakai-Ushijima, Saori; Hiraoka, Nobuyoshi; Kosuge, Tomoo; Hosoda, Fumie; Shibata, Tatsuhiro; Kondo, Tadashi; Yokoi, Sana; Imoto, Issei; Inazawa, Johji; Kanai, Yae Other Names: Filloux Alain Academic Editor. Journal: Journal of biomedicine and biotechnology Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Early manifestations of BPAN in a pediatric patient. Issue 12 (26th September 2014) Authors: Okamoto, Nobuhiko; Ikeda, Tae; Hasegawa, Tatsuji; Yamamoto, Yuto; Kawato, Kazumi; Komoto, Tomohiro; Imoto, Issei Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3095 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗