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Naoya Saijo

Showing results (1-10 of 13) with videos related to

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Clinical Genetics|August 28, 2025
Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male PatientsYu Katata, Yukimune Okubo, Haruhiko Nakamura, et al.
Brain & Development|January 21, 2022
Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosisNaoya Saijo, Yu Abe, Yoshitsugu Oikawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|January 8, 2025
Idiopathic infantile hypercalcemia with a <i>CYP24A1</i> variant triggered by vitamin D supplementation in fortified milk: A case reportSota Iwafuchi, Nao Uchida, Naoya Saijo, et al.
Molecular Genetics & Genomic Medicine|June 17, 2025
A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 VariantYasuko Kobari, Non Miyata, Jun Takayama, et al.
American Journal of Medical Genetics. Part A|October 19, 2024
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus ArteriosusNaoya Saijo, Hisao Yaoita, Jun Takayama, et al.
Journal of Human Genetics|January 13, 2026
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalingsMaiko Ikeda, Chikahiko Numakura, Gen Nishimura, et al.
Case Reports in Neurology|July 9, 2026
Relative Efficacy of Self-Managed Caffeine Supplementation in Maintaining Daily Activity in a Patient with ADCY5-Related Dyskinesia: A Case ReportKaori Kodama, Haruhiko Nakamura, Aritomo Kawashima, et al.
Brain & Development|September 28, 2021
Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutationHinako Kirikae, Mitsugu Uematsu, Yurika Numata-Uematsu, et al.
Journal of Human Genetics|February 13, 2024
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese populationHisao Yaoita, Eiichiro Kawai, Jun Takayama, et al.
Molecular Therapy. Nucleic Acids|April 24, 2026
From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive <i>PCCA</i> pseudoexonEriko Totsune, Yoichi Wada, Yasuko Mikami-Saito, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Clinical Genetics|August 28, 2025
Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male PatientsYu Katata, Yukimune Okubo, Haruhiko Nakamura, et al.
Brain & Development|January 21, 2022
Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosisNaoya Saijo, Yu Abe, Yoshitsugu Oikawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|January 8, 2025
Idiopathic infantile hypercalcemia with a <i>CYP24A1</i> variant triggered by vitamin D supplementation in fortified milk: A case reportSota Iwafuchi, Nao Uchida, Naoya Saijo, et al.
Molecular Genetics & Genomic Medicine|June 17, 2025
A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 VariantYasuko Kobari, Non Miyata, Jun Takayama, et al.
American Journal of Medical Genetics. Part A|October 19, 2024
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus ArteriosusNaoya Saijo, Hisao Yaoita, Jun Takayama, et al.
Journal of Human Genetics|January 13, 2026
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalingsMaiko Ikeda, Chikahiko Numakura, Gen Nishimura, et al.
Case Reports in Neurology|July 9, 2026
Relative Efficacy of Self-Managed Caffeine Supplementation in Maintaining Daily Activity in a Patient with ADCY5-Related Dyskinesia: A Case ReportKaori Kodama, Haruhiko Nakamura, Aritomo Kawashima, et al.
Brain & Development|September 28, 2021
Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutationHinako Kirikae, Mitsugu Uematsu, Yurika Numata-Uematsu, et al.
Journal of Human Genetics|February 13, 2024
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese populationHisao Yaoita, Eiichiro Kawai, Jun Takayama, et al.
Molecular Therapy. Nucleic Acids|April 24, 2026
From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive <i>PCCA</i> pseudoexonEriko Totsune, Yoichi Wada, Yasuko Mikami-Saito, et al.
Pageof 2