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Mamiko Yamada

Showing results (71-80 of 86) with videos related to

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The Keio Journal of Medicine|March 25, 2025
Current Situation and Future Directions of Risk-reducing Salpingo-oophorectomyKenta Masuda, Yusuke Kobayashi, Tomoko Seki, et al.
Frontiers in Immunology|November 11, 2024
A novel functional <i>IKBKE</i> variant activating NFAT in a patient with polyarthritis and a remittent feverSaeko Yamada, Yasuo Nagafuchi, Mamiko Yamada, et al.
European Journal of Medical Genetics|December 31, 2024
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED)Daisuke Watanabe, Yohei Hasebe, Hideaki Yagasaki, et al.
Scientific Reports|August 26, 2024
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysisDaisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, et al.
Cardiology|November 13, 2025
Prognostic Determinants in Patients with Secondary Tricuspid Regurgitation Classified by Right Ventricular Systolic FunctionRumi Hachiya, Yasuhide Mochizuki, Yui Kuroki, et al.
American Journal of Medical Genetics. Part A|May 11, 2021
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating allelesTomoko Uehara, Rikako Sanuki, Yurie Ogura, et al.
European Journal of Medical Genetics|August 12, 2023
BMP2 is a potential causative gene for isolated dextrocardia situs solitusAnalia Yogi, Ryosei Iemura, Hisae Nakatani, et al.
European Journal of Medical Genetics|September 18, 2022
Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variantShizuka Kirino, Mitsuyoshi Suzuki, Takuya Ogawa, et al.
Cancer Science|March 3, 2022
Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross-sectional studyKodai Abe, Minoru Kitago, Kenjiro Kosaki, et al.
European Journal of Medical Genetics|June 27, 2023
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidencesMamiko Yamada, Yohei Nitta, Tomoko Uehara, et al.
Pageof 9

Showing results (71-80 of 86) with videos related to

Sort By:
Pageof 9
The Keio Journal of Medicine|March 25, 2025
Current Situation and Future Directions of Risk-reducing Salpingo-oophorectomyKenta Masuda, Yusuke Kobayashi, Tomoko Seki, et al.
Frontiers in Immunology|November 11, 2024
A novel functional <i>IKBKE</i> variant activating NFAT in a patient with polyarthritis and a remittent feverSaeko Yamada, Yasuo Nagafuchi, Mamiko Yamada, et al.
European Journal of Medical Genetics|December 31, 2024
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED)Daisuke Watanabe, Yohei Hasebe, Hideaki Yagasaki, et al.
Scientific Reports|August 26, 2024
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysisDaisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, et al.
Cardiology|November 13, 2025
Prognostic Determinants in Patients with Secondary Tricuspid Regurgitation Classified by Right Ventricular Systolic FunctionRumi Hachiya, Yasuhide Mochizuki, Yui Kuroki, et al.
American Journal of Medical Genetics. Part A|May 11, 2021
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating allelesTomoko Uehara, Rikako Sanuki, Yurie Ogura, et al.
European Journal of Medical Genetics|August 12, 2023
BMP2 is a potential causative gene for isolated dextrocardia situs solitusAnalia Yogi, Ryosei Iemura, Hisae Nakatani, et al.
European Journal of Medical Genetics|September 18, 2022
Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variantShizuka Kirino, Mitsuyoshi Suzuki, Takuya Ogawa, et al.
Cancer Science|March 3, 2022
Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross-sectional studyKodai Abe, Minoru Kitago, Kenjiro Kosaki, et al.
European Journal of Medical Genetics|June 27, 2023
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidencesMamiko Yamada, Yohei Nitta, Tomoko Uehara, et al.
Pageof 9