1. Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach. Issue 2 (February 2018) Authors: Abe, Kiyomi; Narumi, Satoshi; Suwanai, Ayuko S.; Adachi, Masanori; Muroya, Koji; Asakura, Yumi; Nagasaki, Keisuke; Abe, Takayuki; Hasegawa, Tomonobu Journal: European journal of endocrinology Issue: Volume 178:Issue 2(2018) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bone marrow transplantation in Schimke immuno‐osseous dysplasia. Issue 10 (15th August 2013) Authors: Baradaran‐Heravi, Alireza; Lange, Jonas; Asakura, Yumi; Cochat, Pierre; Massella, Laura; Boerkoel, Cornelius F. Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a. (19th July 2009) Authors: Adachi, Masanori; Muroya, Koji; Asakura, Yumi; Kondoh, Yoichi; Ishihara, Jun; Hasegawa, Tomonobu Other Names: New Maria I. Academic Editor. Journal: International journal of endocrinology Issue: Volume 2009(2009) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a. (19th July 2009) Authors: Adachi, Masanori; Muroya, Koji; Asakura, Yumi; Kondoh, Yoichi; Ishihara, Jun; Hasegawa, Tomonobu Other Names: New Maria I. Academic Editor. Journal: International journal of endocrinology Issue: Volume 2009(2009) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling. Issue 23 (10th May 2022) Authors: Narumi, Satoshi; Opitz, Robert; Nagasaki, Keisuke; Muroya, Koji; Asakura, Yumi; Adachi, Masanori; Abe, Kiyomi; Sugisawa, Chiho; Kühnen, Peter; Ishii, Tomohiro; Nöthen, Markus M; Krude, Heiko; Hasegawa, Tomonobu Journal: Human molecular genetics Issue: Volume 31:Issue 23(2022) Page Start: 3967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of the first promoter‐specific gain‐of‐function SOX9 missense variant (p.E50K) in a patient with 46, XX ovotesticular disorder of sex development. Issue 4 (5th January 2021) Authors: Ushijima, Kikumi; Ogawa, Yuya; Terao, Miho; Asakura, Yumi; Muroya, Koji; Hayashi, Mie; Ishii, Tomohiro; Hasegawa, Tomonobu; Sekido, Ryohei; Fukami, Maki; Takada, Shuji; Narumi, Satoshi Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1067 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?. Issue 1 (December 2016) Authors: Morimoto, Marie; Myung, Clara; Beirnes, Kimberly; Choi, Kunho; Asakura, Yumi; Bokenkamp, Arend; Bonneau, Dominique; Brugnara, Milena; Charrow, Joel; Colin, Estelle; Davis, Amira; Deschenes, Georges; Gentile, Mattia; Giordano, Mario; Gormley, Andrew; Govender, Rajeshree; Joseph, Mark; Keller, Kory... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Myhre syndrome: a rare craniofacial disorder. Issue 4 (October 2014) Authors: Ishibashi, Naho; Sasaki, Yasunori; Asakura, Yumi Journal: Cranio Issue: Volume 32:Issue 4(2014) Page Start: 300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Myhre syndrome: a rare craniofacial disorder. Issue 4 (October 2014) Authors: Ishibashi, Naho; Sasaki, Yasunori; Asakura, Yumi Journal: Cranio Issue: Volume 32:Issue 4(2014) Page Start: 300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Neonatal case of classic maple syrup urine disease: Usefulness of 1H‐MRS in early diagnosis. Issue 1 (February 2014) Authors: Sato, Takeshi; Muroya, Koji; Hanakawa, Junko; Asakura, Yumi; Aida, Noriko; Tomiyasu, Moyoko; Tajima, Go; Hasegawa, Tomonobu; Adachi, Masanori Journal: Pediatrics international Issue: Volume 56:Issue 1(2014) Page Start: 112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗