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Sanami Takada

Showing results (1-10 of 17) with videos related to

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Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia|July 4, 2020
Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosisSanami Takada, Megumu K Saito, Naotomo Kambe
Clinical Genetics|August 1, 2023
Human phenotype caused by biallelic KDM4B frameshift variantSanami Takada, Sebastián Silva, Ivonne Zamorano, et al.
Trends in Immunology|March 5, 2021
ATM: Translating the DNA Damage Response to Adaptive ImmunityThomas J Weitering, Sanami Takada, Corry M R Weemaes, et al.
Clinical Genetics|January 7, 2025
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status EpilepticusSebastián Silva, Viviana Venegas, Marcela Valenzuela, et al.
Human Genetics|November 23, 2023
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseasesYuki Hitomi, Kazuko Ueno, Yoshihiro Aiba, et al.
Human Genomics|October 22, 2022
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoformsYuki Hitomi, Yoshihiro Aiba, Kazuko Ueno, et al.
Journal of Clinical Immunology|December 14, 2024
A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive SymptomsSanami Takada, Silvanna Gallo, Sebastian Silva, et al.
Hormone Research in Paediatrics|October 27, 2021
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1Joel Riquelme, Sanami Takada, Tessa van Dijk, et al.
Pediatric Neurology|September 27, 2020
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch CohortMark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, et al.
NPJ Genomic Medicine|November 5, 2024
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalitiesSimo Li, Sanami Takada, Ghada M H Abdel-Salam, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia|July 4, 2020
Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosisSanami Takada, Megumu K Saito, Naotomo Kambe
Clinical Genetics|August 1, 2023
Human phenotype caused by biallelic KDM4B frameshift variantSanami Takada, Sebastián Silva, Ivonne Zamorano, et al.
Trends in Immunology|March 5, 2021
ATM: Translating the DNA Damage Response to Adaptive ImmunityThomas J Weitering, Sanami Takada, Corry M R Weemaes, et al.
Clinical Genetics|January 7, 2025
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status EpilepticusSebastián Silva, Viviana Venegas, Marcela Valenzuela, et al.
Human Genetics|November 23, 2023
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseasesYuki Hitomi, Kazuko Ueno, Yoshihiro Aiba, et al.
Human Genomics|October 22, 2022
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoformsYuki Hitomi, Yoshihiro Aiba, Kazuko Ueno, et al.
Journal of Clinical Immunology|December 14, 2024
A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive SymptomsSanami Takada, Silvanna Gallo, Sebastian Silva, et al.
Hormone Research in Paediatrics|October 27, 2021
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1Joel Riquelme, Sanami Takada, Tessa van Dijk, et al.
Pediatric Neurology|September 27, 2020
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch CohortMark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, et al.
NPJ Genomic Medicine|November 5, 2024
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalitiesSimo Li, Sanami Takada, Ghada M H Abdel-Salam, et al.
Pageof 2