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Yoko Aoki

Showing results (181-190 of 255) with videos related to

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Clinical Case Reports|July 11, 2018
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature deathAkihiro Tamura, Suguru Uemura, Kousaku Matsubara, et al.
Journal of Human Genetics|April 6, 2006
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlationFumiaki Kamada, Shigeo Kure, Takayuki Kudo, et al.
Human Genetics|October 29, 2018
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexesIkumi Umeki, Tetsuya Niihori, Taiki Abe, et al.
Japanese Journal of Infectious Diseases|July 30, 2025
Parechovirus A3 infections, including myalgia, in Yamagata, Japan between 2022 and 2023 and their next-generation sequencing analysesKenichi Komabayashi, Shuji Chikaoka, Hiroki Awano, et al.
Journal of Human Genetics|January 28, 2022
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile ductMiyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, et al.
Molecular Genetics and Metabolism|April 17, 2007
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysisJunko Kanno, Shigeo Kure, Ayumi Narisawa, et al.
Journal of Human Genetics|March 8, 2019
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndromeSato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, et al.
American Journal of Hematology|December 7, 2025
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative DisorderShinsuke Hirabayashi, Manabu Wakamatsu, Masataka Hasegawa, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|August 29, 2015
Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitisEriko Nakano, Andrea Geisz, Atsushi Masamune, et al.
Journal of Human Genetics|March 24, 2022
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire surveyAkari Minamoto, Takahiro Yamada, Saki Shimada, et al.
Pageof 26

Showing results (181-190 of 255) with videos related to

Sort By:
Pageof 26
Clinical Case Reports|July 11, 2018
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature deathAkihiro Tamura, Suguru Uemura, Kousaku Matsubara, et al.
Journal of Human Genetics|April 6, 2006
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlationFumiaki Kamada, Shigeo Kure, Takayuki Kudo, et al.
Human Genetics|October 29, 2018
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexesIkumi Umeki, Tetsuya Niihori, Taiki Abe, et al.
Japanese Journal of Infectious Diseases|July 30, 2025
Parechovirus A3 infections, including myalgia, in Yamagata, Japan between 2022 and 2023 and their next-generation sequencing analysesKenichi Komabayashi, Shuji Chikaoka, Hiroki Awano, et al.
Journal of Human Genetics|January 28, 2022
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile ductMiyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, et al.
Molecular Genetics and Metabolism|April 17, 2007
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysisJunko Kanno, Shigeo Kure, Ayumi Narisawa, et al.
Journal of Human Genetics|March 8, 2019
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndromeSato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, et al.
American Journal of Hematology|December 7, 2025
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative DisorderShinsuke Hirabayashi, Manabu Wakamatsu, Masataka Hasegawa, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|August 29, 2015
Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitisEriko Nakano, Andrea Geisz, Atsushi Masamune, et al.
Journal of Human Genetics|March 24, 2022
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire surveyAkari Minamoto, Takahiro Yamada, Saki Shimada, et al.
Pageof 26