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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.
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
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Osawa Y, Kobayashi H, Tajima G, Hara K, Yamada K, Fukuda S, Hasegawa Y, Aisaki J, Yuasa M, Hata I, Okada S, Shigematsu Y, Sasai H, Fukao T, Takizawa T, Yamaguchi S, Taketani T. Osawa Y, et al. Among authors: kobayashi h. Mol Genet Metab. 2022 May;136(1):74-79. doi: 10.1016/j.ymgme.2022.03.009. Epub 2022 Mar 25. Mol Genet Metab. 2022. PMID: 35400565
9,337 results