1. 58th Annual Meeting of the Japanese Teratology Society: Congenital anomalies as variants. (12th October 2018) Authors: Numabe, Hironao Journal: Congenital anomalies Issue: Volume 58:Number 6(2018) Page Start: 186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss. Issue 5 (28th October 2015) Authors: Sakazume, Satoru; Kido, Yasuhiro; Murakami, Nobuyuki; Matsubara, Tomoyo; Numabe, Hironao Journal: Pediatrics international Issue: Volume 57:Issue 5(2015) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Background of couples undergoing non‐invasive prenatal testing in Japan. Issue 10 (16th June 2016) Authors: Takeda, Eri; Suzumori, Nobuhiro; Kumagai, Kyoko; Oseto, Kumiko; Ebara, Takeshi; Yotsumoto, Junko; Numabe, Hironao; Sugiura‐Ogasawara, Mayumi Journal: Journal of obstetrics and gynaecology research Issue: Volume 42:Issue 10(2016) Page Start: 1222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia. Issue 2 (5th December 2013) Authors: Tsuchiya, Takayoshi; Shibata, Minoru; Numabe, Hironao; Jinno, Tomoko; Nakabayashi, Kazuhiko; Nishimura, Gen; Nagai, Toshiro; Ogata, Tsutomu; Fukami, Maki Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments. Issue 24 (21st July 2022) Authors: Suzuki, Hisato; Li, Simo; Tokutomi, Tomoharu; Takeuchi, Chisen; Takahashi, Miyuki; Yamada, Mamiko; Okuno, Hironobu; Miya, Fuyuki; Takenouchi, Toshiki; Numabe, Hironao; Kosaki, Kenjiro; Ohshima, Toshio Journal: Human molecular genetics Issue: Volume 31:Issue 24(2022) Page Start: 4173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Development of individuals with thanatophoric dysplasia surviving beyond infancy. Issue 1 (9th February 2022) Authors: Ushioda, Mariko; Sawai, Hideaki; Numabe, Hironao; Nishimura, Gen; Shibahara, Hiroaki 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. Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children. Issue 5 (July 2019) Authors: Shimura, Masaru; Nishimata, Shigeo; Saito, Naoko; Tsutsumi, Norito; Suzuki, Shinji; Morishima, Yasuyuki; Kashiwagi, Yasuyo; Numabe, Hironao; Kawashima, Hisashi Journal: Journal of pediatric hematology/oncology Issue: Volume 41:Issue 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners. Issue 3 (9th November 2016) Authors: Watanabe, Motoko; Matsuo, Mari; Ogawa, Masaki; Uchiyama, Toshitaka; Shimizu, Satoru; Iwasaki, Naoko; Yamauchi, Akemi; Urano, Mari; Numabe, Hironao; Saito, Kayoko Journal: Journal of genetic counseling Issue: Volume 26:Issue 3(2017) Page Start: 628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia‐telangiectasia‐like disorder: Potential diagnostic clues?. Issue 7 (14th April 2014) Authors: Yoshida, Takeshi; Awaya, Tomonari; Shibata, Minoru; Kato, Takeo; Numabe, Hironao; Kobayashi, Junya; Komatsu, Kenshi; Heike, Toshio Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1830 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Impacted tooth extraction from osteoma in a patient with Robinow syndrome diagnosed from intraoral lesions: A case report and literature review. Issue 5 (September 2015) Authors: Mishima, Sayaka; Yamaguchi, Akihiko; Ikeno, Masayuki; Watanabe, Takuma; Tanaka, Akio; Numabe, Hironao; Bessho, Kazuhisa Journal: Journal of oral and maxillofacial surgery, medicine, and pathology Issue: Volume 27:Issue 5(2015) Page Start: 703 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗