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Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 18, 2018
Two siblings with congenital central hypothyroidism caused by a novel mutation in the <i>IGSF1</i> geneMakiko Oguma, Mizuki Kobayashi, Masayo Yamazaki, et al.
Endocrine Journal|June 4, 2008
A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndromeKazutaka Aoki, Toshihiro Tajima, Yasuhiro Yabushita, et al.
Endocrine Journal|August 10, 2021
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologistsKei Takasawa, Akari Nakamura-Utsunomiya, Naoko Amano, et al.
Scientific Reports|December 31, 2024
An unstable variant of GAP43 leads to neurodevelopmental deficiencyMariko Noda, Ayumi Matsumoto, Hidenori Ito, et al.
Case Reports in Pediatrics|March 28, 2015
Corrigendum to "Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene"Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, et al.
Case Reports in Pediatrics|August 21, 2014
Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 GeneShigeru Makino, Toshihiro Tajima, Jun Shinozuka, et al.
Case Reports in Pediatrics|August 4, 2018
Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the <i>AVPR2</i> MutationsNoriko Namatame-Ohta, Shuntaro Morikawa, Akie Nakamura, et al.
Endocrine Journal|December 16, 2010
Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndromeAkie Nakamura, Fumie Fujiwara, Yukihiro Hasegawa, et al.
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