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JGH Open : an Open Access Journal of Gastroenterology and Hepatology|October 26, 2020
Ischemic colitis in an infant with constipation treated with stimulant laxativeHirotaka Sakaguchi, Toshihiko Shirakawa, Tatsuki Mizuochi
The Pediatric Infectious Disease Journal|June 8, 2013
A neonatal case of Japanese spotted feverYo Hamaguchi, Toshihiko Shirakawa, Yutaka Kuwatsuka, et al.
Journal of Human Genetics|January 30, 2019
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiencySumito Dateki, Satoshi Watanabe, Hiroyuki Mishima, et al.
IJU Case Reports|November 6, 2023
Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomicsTomiko Kuhara, Masahiro Tetsuo, Morimasa Ohse, et al.
CEN Case Reports|January 11, 2018
A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failureToshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, et al.
The Kurume Medical Journal|May 28, 2023
Proteinuria and Renal Dysfunction Due to Extremely Low Birth Weight in a Patient with Silver-Russell SyndromeMayu Iwata, Tadashi Uramatsu, Kenta Torigoe, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|March 15, 2012
Lack of an association between E-selectin gene polymorphisms and risk of Kawasaki diseaseToshihiko Shirakawa, Kazuyuki Ikeda, Shinji Nishimura, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
The Journal of Allergy and Clinical Immunology|May 21, 2018
Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1Tsubasa Okano, Kohsuke Imai, Yuki Tsujita, et al.
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