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The Journal of Clinical Endocrinology and Metabolism|September 7, 2022
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase DeficiencyKazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, et al.
The Journal of Clinical Endocrinology and Metabolism|December 8, 2009
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotypeSumito Dateki, Kitaro Kosaka, Kosei Hasegawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 5, 2022
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, et al.
Clinical Endocrinology|April 5, 2017
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trialTaichi Kitaoka, Toshihiro Tajima, Keisuke Nagasaki, et al.
Human Mutation|September 10, 2016
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesMaki Igarashi, Kei Takasawa, Akiko Hakoda, et al.
Endocrine Journal|June 29, 2016
Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline [Opinion]Toshihiko Yanase, Toshihiro Tajima, Takuyuki Katabami, et al.
The Journal of Clinical Endocrinology and Metabolism|October 7, 2023
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase DeficiencyEriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, et al.
BMC Health Services Research|October 23, 2016
Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in JapanEri Maeda, Takahiro Higashi, Tomonobu Hasegawa, et al.
The Journal of Clinical Endocrinology and Metabolism|May 25, 2006
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in JapanAkira Hishinuma, Shuji Fukata, Soroku Nishiyama, et al.
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