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Internal Medicine (Tokyo, Japan)|November 2, 2020
Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular SteatohepatitisKentaro Horiuchi, Tomomi Kogiso, Takaomi Sagawa, et al.
Pediatric Nephrology (Berlin, Germany)|July 14, 2025
Clinical characteristics of patients with SALL1-related disorderYoshitaka Asagai, Yu Tanaka, Hiroaki Hanafusa, et al.
Pediatric Emergency Care|April 15, 2016
Current Situation of Treatment for Anaphylaxis in a Japanese Pediatric Emergency CenterTakeshi Ninchoji, Sota Iwatani, Masahiro Nishiyama, et al.
Human Genome Variation|July 3, 2019
A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosisHiroaki Hanafusa, Naoya Morisada, Tadashi Nomura, et al.
Clinical and Experimental Nephrology|September 2, 2015
Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1Naohiro Kamiyoshi, Kandai Nozu, Yoshimichi Urahama, et al.
CEN Case Reports|October 13, 2022
A case of Potter sequence with WT1 mutationMiwa Yoshino, Wataru Shimabukuro, Mina Takeichi, et al.
Journal of Diabetes Investigation|January 15, 2019
Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5Yasuko Ohara, Yuko Okada, Tomoko Yamada, et al.
Minerva Pediatrica|June 9, 2016
Clinical factors associated with prehospital exacerbation of anaphylaxis in childrenTakeshi Ninchoji, Sota Iwatani, Masahiro Nishiyama, et al.
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