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Kaori Yamoto

Showing results (1-10 of 22) with videos related to

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Clinical Epigenetics|June 5, 2024
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature reviewKaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, et al.
Molecular Genetics & Genomic Medicine|December 2, 2024
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, et al.
Congenital Anomalies|June 29, 2025
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature reviewKaori Yamoto, Sachiko Miyamoto, Kosuke Yamada, et al.
Congenital Anomalies|December 8, 2023
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosisKaori Yamoto, Fumiko Kato, Masaya Yamoto, et al.
Seizure|August 14, 2025
Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variantTakato Akiba, Kaori Yamoto, Takuya Hiraide, et al.
Surgical Case Reports|March 12, 2017
Continuous transanal decompression for infants with long- and total-type Hirschsprung's diseases as a bridge to curative surgery: a single-center experienceKyoko Mochizuki, Masato Shinkai, Norihiko Kitagawa, et al.
Journal of Human Genetics|August 8, 2019
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformationDaisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, et al.
Clinical Case Reports|June 25, 2020
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of <i>RPS6KA3</i> disruption by whole genome sequencingKaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, et al.
European Journal of Medical Genetics|November 8, 2019
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic featuresTokiko Fukuda, Takuya Hiraide, Kaori Yamoto, et al.
Journal of Human Genetics|October 25, 2019
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletionsAkira Ohishi, Yohei Masunaga, Shigeo Iijima, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Clinical Epigenetics|June 5, 2024
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature reviewKaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, et al.
Molecular Genetics & Genomic Medicine|December 2, 2024
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, et al.
Congenital Anomalies|June 29, 2025
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature reviewKaori Yamoto, Sachiko Miyamoto, Kosuke Yamada, et al.
Congenital Anomalies|December 8, 2023
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosisKaori Yamoto, Fumiko Kato, Masaya Yamoto, et al.
Seizure|August 14, 2025
Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variantTakato Akiba, Kaori Yamoto, Takuya Hiraide, et al.
Surgical Case Reports|March 12, 2017
Continuous transanal decompression for infants with long- and total-type Hirschsprung's diseases as a bridge to curative surgery: a single-center experienceKyoko Mochizuki, Masato Shinkai, Norihiko Kitagawa, et al.
Journal of Human Genetics|August 8, 2019
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformationDaisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, et al.
Clinical Case Reports|June 25, 2020
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of <i>RPS6KA3</i> disruption by whole genome sequencingKaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, et al.
European Journal of Medical Genetics|November 8, 2019
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic featuresTokiko Fukuda, Takuya Hiraide, Kaori Yamoto, et al.
Journal of Human Genetics|October 25, 2019
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletionsAkira Ohishi, Yohei Masunaga, Shigeo Iijima, et al.
Pageof 3