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Daniela Tiaki Uehara

Showing results (1-10 of 7) with videos related to

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Human Genetics|March 15, 2021
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short statureDaniela Tiaki Uehara, Hiroshi Mitsubuchi, Johji Inazawa
Journal of Human Genetics|September 1, 2019
Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panelKyoko Hirabayashi, Daniela Tiaki Uehara, Hidetoshi Abe, et al.
JBMR Plus|September 13, 2023
Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous FamilyDaniela Tiaki Uehara, Tomoki Muramatsu, Senichi Ishii, et al.
Molecular Neurobiology|December 25, 2025
Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic PleiotropyYasuyo Suzuki, Daniela Tiaki Uehara, Yasushi Enokido, et al.
Plos One|August 8, 2017
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, et al.
Genetic Testing and Molecular Biomarkers|August 21, 2010
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing lossDaniela Tiaki Uehara, Daniel Rincon, Ronaldo Serafim Abreu-Silva, et al.
Journal of Human Genetics|January 8, 2016
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangementsDaniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Human Genetics|March 15, 2021
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short statureDaniela Tiaki Uehara, Hiroshi Mitsubuchi, Johji Inazawa
Journal of Human Genetics|September 1, 2019
Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panelKyoko Hirabayashi, Daniela Tiaki Uehara, Hidetoshi Abe, et al.
JBMR Plus|September 13, 2023
Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous FamilyDaniela Tiaki Uehara, Tomoki Muramatsu, Senichi Ishii, et al.
Molecular Neurobiology|December 25, 2025
Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic PleiotropyYasuyo Suzuki, Daniela Tiaki Uehara, Yasushi Enokido, et al.
Plos One|August 8, 2017
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, et al.
Genetic Testing and Molecular Biomarkers|August 21, 2010
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing lossDaniela Tiaki Uehara, Daniel Rincon, Ronaldo Serafim Abreu-Silva, et al.
Journal of Human Genetics|January 8, 2016
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangementsDaniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto, et al.
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