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Plos One|March 10, 2022
iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromesSilvia Natsuko Akutsu, Tatsuo Miyamoto, Daiju Oba, et al.
Brain & Development|January 1, 2018
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case reportTadashi Shiohama, Hirofumi Ohashi, Kenji Shimizu, et al.
Circulation Journal : Official Journal of the Japanese Circulation Society|February 8, 2021
Diagnostic Performance of High-Resolution Intravascular Ultrasound for Abnormal Post-Stent Findings After Stent Implantation - A Comparison Study Between High-Resolution Intravascular Ultrasound and Optical Coherence TomographyHirohiko Ando, Yusuke Nakano, Hiroaki Sawada, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
RMRP mutations in Japanese patients with cartilage-hair hypoplasiaEiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, et al.
Journal of Human Genetics|June 17, 2008
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasiaAtsushi Miyake, Gen Nishimura, Toru Futami, et al.
Nucleic Acids Research|August 31, 2013
Sequence-specific microscopic visualization of DNA methylation status at satellite repeats in individual cell nuclei and chromosomesYufeng Li, Yusuke Miyanari, Kenjiro Shirane, et al.
American Journal of Medical Genetics. Part A|March 3, 2009
A patient with early onset Huntington disease and severe cerebellar atrophySatoru Sakazume, Satoshi Yoshinari, Eiji Oguma, et al.
Journal of Pediatric Orthopedics|November 21, 2024
The Change of Asymptomatic Atlantoaxial Instability With Down Syndrome From Infant to Adolescent in Japanese Population: Minimum 10 Years Follow-UpMasayoshi Machida, Brett Rocos, Katsuaki Taira, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|November 22, 2025
Clinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center studyHirohito Kubota, Kohei Fukuoka, Yuki Arakawa, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1)Yoko Hiraki, Hiroko Fujita, Shunji Yamamori, et al.
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