1. A case of 3 months old Japanese boy with sporadic congenital none-autoimmune hyperthyroidism. (December 2015) Authors: Kinjo, Saori; Kanno, Masayuki; Matayoshi, Kei; Takefuta, Kiyotaka; Izumi, Ayako; Sugisawa, Chiho; Narumi, Satoshi; Kohama, Moriyasu Journal: International journal of pediatric endocrinology Issue: Volume 2015(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome. (25th February 2015) Authors: Nakamura, Yoshie; Takagi, Masaki; Yoshihashi, Hiroshi; Miura, Masaru; Narumi, Satoshi; Hasegawa, Tomonobu; Miyake, Yoshishige; Hasegawa, Yukihiro Journal: American journal of medical genetics Issue: Volume 167:Number 5(2015:May) Page Start: 1171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Issue 4 (12th February 2017) Authors: Takagi, Masaki; Dobashi, Kazushige; Nagahara, Keiko; Kato, Mitsuhiro; Nishimura, Gen; Fukuzawa, Ryuji; Narumi, Satoshi; Hasegawa, Tomonobu Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1071 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity. (30th June 2016) Authors: Takagi, Masaki; Shinohara, Hiroyuki; Nagashima, Yuka; Hasegawa, Yukihiro; Narumi, Satoshi; Hasegawa, Tomonobu Journal: Clinical endocrinology Issue: Volume 85:Number 4(2016) Page Start: 669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism. (30th August 2020) Authors: Yakou, Fumiyoshi; Suwanai, Hirotsugu; Ishikawa, Takuya; Itou, Mariko; Shikuma, Jumpei; Miwa, Takashi; Sakai, Hiroyuki; Kanekura, Kohsuke; Narumi, Satoshi; Suzuki, Ryo; Odawara, Masato Other Names: Russo Diego Academic Editor. Journal: International journal of endocrinology Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Issue 2 (21st December 2017) Authors: Jeffries, Lauren; Shima, Hirohito; Ji, Weizhen; Panisello‐Manterola, David; McGrath, James; Bird, Lynne M.; Konstantino, Monica; Narumi, Satoshi; Lakhani, Saquib Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. Issue 12 (December 2018) Authors: Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. Issue 12 (December 2018) Authors: Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression. (1st April 2013) Authors: Suwanai, Ayuko S.; Ishii, Tomohiro; Haruna, Hidenori; Yamataka, Atsuyuki; Narumi, Satoshi; Fukuzawa, Ryuji; Ogata, Tsutomu; Hasegawa, Tomonobu Journal: Clinical endocrinology Issue: Volume 78:Number 6(2013:Jun.) Page Start: 957 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Age-Dependent and Seasonal Changes in Menstrual Cycle Length and Body Temperature Based on Big Data. Issue 4 (October 2020) Authors: Tatsumi, Takayuki; Sampei, Makiko; Saito, Kazuki; Honda, Yuka; Okazaki, Yuka; Arata, Naoko; Narumi, Kanako; Morisaki, Naho; Ishikawa, Tomonori; Narumi, Satoshi Journal: Obstetrics and gynecology Issue: Volume 136:Issue 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗