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Page 1
Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.
Nagasaki K, Kubota T, Kobayashi H, Sawada H, Numakura C, Harada S, Takasawa K, Minamitani K, Ishii T, Okada S, Kamasaki H, Sugihara S, Adachi M, Tajima T. Nagasaki K, et al. Among authors: kobayashi h. Clin Pediatr Endocrinol. 2017;26(4):207-213. doi: 10.1297/cpe.26.207. Epub 2017 Sep 28. Clin Pediatr Endocrinol. 2017. PMID: 29026269 Free PMC article.
Achondroplasia and enchondromatosis: report of three boys.
Numakura C, Kobayashi H, Hasegawa Y, Adachi M, Kim OH, Nishimura G. Numakura C, et al. Among authors: kobayashi h. Skeletal Radiol. 2007 Jun;36 Suppl 1:S29-33. doi: 10.1007/s00256-006-0161-x. Epub 2006 Jun 9. Skeletal Radiol. 2007. PMID: 16763840
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy.
Wada K, Kobayashi H, Moriyama A, Haneda Y, Mushimoto Y, Hasegawa Y, Onigata K, Kumori K, Ishikawa N, Maruyama R, Sogo T, Murphy L, Taketani T. Wada K, et al. Among authors: kobayashi h. Clin Pediatr Endocrinol. 2017;26(4):251-257. doi: 10.1297/cpe.26.251. Epub 2017 Sep 28. Clin Pediatr Endocrinol. 2017. PMID: 29026274 Free PMC article.
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.
Ishii T, Adachi M, Takasawa K, Okada S, Kamasaki H, Kubota T, Kobayashi H, Sawada H, Nagasaki K, Numakura C, Harada S, Minamitani K, Sugihara S, Tajima T. Ishii T, et al. Among authors: kobayashi h. Horm Res Paediatr. 2018;89(3):166-171. doi: 10.1159/000486393. Epub 2018 Feb 16. Horm Res Paediatr. 2018. PMID: 29455197
Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.
Miyakawa Y, Takasawa K, Matsubara Y, Ihara K, Ohtsu Y, Kamasaki H, Kitsuda K, Kobayashi H, Satoh M, Sano S, Dateki S, Mochizuki H, Yokota I, Hasegawa Y, Kashimada K. Miyakawa Y, et al. Among authors: kobayashi h. Endocr J. 2019 Mar 28;66(3):215-221. doi: 10.1507/endocrj.EJ18-0326. Epub 2019 Jan 23. Endocr J. 2019. PMID: 30674755 Free article.
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).
Nagasaki K, Minamitani K, Nakamura A, Kobayashi H, Numakura C, Itoh M, Mushimoto Y, Fujikura K, Fukushi M, Tajima T. Nagasaki K, et al. Among authors: kobayashi h. Clin Pediatr Endocrinol. 2023;32(1):26-51. doi: 10.1297/cpe.2022-0063. Epub 2022 Dec 4. Clin Pediatr Endocrinol. 2023. PMID: 36761493 Free PMC article.
Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.
Konomura K, Numakura C, Nakamura-Utsunomiya A, Hoshino E, Tajima G, Kobayashi H, Nakamura K, Shimozawa N, Bo R, Shiroiwa T, Shigematsu Y, Fukuda T. Konomura K, et al. Among authors: kobayashi h. Qual Life Res. 2024 Dec;33(12):3323-3333. doi: 10.1007/s11136-024-03775-0. Epub 2024 Sep 4. Qual Life Res. 2024. PMID: 39230839 Free PMC article.
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: kobayashi h, kobayashi m. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073
9,548 results