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Thyroid : Official Journal of the American Thyroid Association|October 21, 2016
A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 MutationSatsuki Nishigaki, Takashi Hamazaki, Keinosuke Fujita, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1Osamu Kawano, Akie Nakamura, Shuntaro Morikawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 31, 2013
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley SyndromeSayaka Yamamoto, Koji Okuhara, Hidefumi Tonoki, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 15, 2017
Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutationMasayo Yamazaki, Hideo Sugie, Makiko Oguma, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|November 21, 2022
Functional analysis of <i>PAX8</i> variants identified in patients with congenital hypothyroidism <i>in situ</i>Khishigjargal Batjargal, Toshihiro Tajima, Eriko Fujita-Jimbo, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 14, 2017
A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancyNozomi Hishimura-Yonemaru, Koji Okuhara, Nobuhiro Takahashi, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|November 24, 2015
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2Shuntaro Morikawa, Nagisa Komatsu, Sonoko Sakata, et al.
Clinical and Experimental Nephrology|April 9, 2010
Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronismMasanori Adachi, Yumi Asakura, Koji Muroya, et al.
Hormone Research|December 4, 2003
46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutationToshihiro Tajima, Satoshi Sasaki, Yayoi Tanaka, et al.
The Journal of Clinical Endocrinology and Metabolism|October 16, 2008
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitaryToshihiro Tajima, Akira Ohtake, Masaya Hoshino, et al.
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