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Brain & Development|April 11, 2022
A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndromeKazuyuki Komatsu, Shinobu Fukumura, Kimio Minagawa, et al.Journal of Human Genetics|January 6, 2026
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disordersTaiju Hayashi, Sachiko Miyamoto, Yusaku Endo, et al.Journal of Human Genetics|December 15, 2023
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicingRyota Kawakami, Takuya Hiraide, Kazuki Watanabe, et al.European Journal of Human Genetics : EJHG|June 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorderKazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, et al.Scientific Reports|October 21, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencingKazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, et al.ESC Heart Failure|February 19, 2026
Myocardial testosterone glucuronide and disease phenotypes in hypertrophic cardiomyopathyTakenori Ikoma, Keitaro Akita, Kazuto Ohno, et al.Cancer Science|November 17, 2025
Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 StudyKayoko Tao, Takako Yoshioka, Miho Kato, et al.Pageof 1