1. 1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay. Issue 2 (25th November 2013) Authors: Takenouchi, Toshiki; Hashida, Noriko; Torii, Chiharu; Kosaki, Rika; Takahashi, Takao; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 456 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A female newborn having mosaicism with near‐tetraploidy and trisomy 18. Issue 5 (20th January 2016) Authors: Wada, Yuka; Kakiuchi, Satsuki; Mizuguchi, Koichi; Nakamura, Tomoo; Ito, Yushi; Sago, Haruhiko; Kosaki, Rika Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Acute myeloid leukemia‐associated DNMT3A p.Arg882His mutation in a patient with Tatton‐Brown–Rahman overgrowth syndrome as a constitutional mutation. Issue 1 (7th November 2016) Authors: Kosaki, Rika; Terashima, Hiroshi; Kubota, Masaya; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Issue 2 (3rd December 2017) Authors: Kosaki, Rika; Horikawa, Reiko; Fujii, Eriko; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 404 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome. (November 2014) Authors: Yagihashi, Tatsuhiko; Torii, Chiharu; Takahashi, Reiko; Omori, Mikimasa; Kosaki, Rika; Yoshihashi, Hiroshi; Ihara, Masahiro; Minagawa‐Kawai, Yasuyo; Yamamoto, Junichi; Takahashi, Takao; Kosaki, Kenjiro Journal: Congenital anomalies Issue: Volume 54:Number 4(2014:Dec.) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes. Issue 7 (5th May 2020) Authors: Kosaki, Rika; Kubota, Masaya; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Daytime somnolence in an adult with smith–magenis syndrome. Issue 7 (17th May 2013) Authors: Takenouchi, Toshiki; Saito, Hideyuki; Oishi, Naoki; Fukushima, Hiroyuki; Kosaki, Rika; Torii, Chiharu; Takahashi, Takao; Kenjiro, Kosaki Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome. Issue 4 (18th January 2016) Authors: Watanabe, Satoshi; Shimizu, Kenji; Ohashi, Hirofumi; Kosaki, Rika; Okamoto, Nobuhiko; Shimojima, Keiko; Yamamoto, Toshiyuki; Chinen, Yasutsugu; Mizuno, Seiji; Dowa, Yuri; Shiomi, Natsuko; Toda, Yoshihiro; Tashiro, Katsuya; Shichijo, Koichi; Minatozaki, Kazunori; Aso, Seijiro; Minagawa, Kyoko; Hir... Journal: American journal of medical genetics Issue: Volume 170:Issue 4(2016) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Four‐decade‐old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency. Issue 10 (13th August 2014) Authors: Takenouchi, Toshiki; Tsukahara, Yuki; Horikawa, Reiko; Kosaki, Kenjiro; Kosaki, Rika Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2679 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Four‐decade‐old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency. Issue 10 (13th August 2014) Authors: Takenouchi, Toshiki; Tsukahara, Yuki; Horikawa, Reiko; Kosaki, Kenjiro; Kosaki, Rika Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2679 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗