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Annals of Neurology
|
April 5, 2019
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2020
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia
Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
American Journal of Human Genetics
|
June 25, 2013
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, et al.
Journal of Clinical Virology : the Official Publication of the Pan American Society for Clinical Virology
|
June 1, 2016
Evaluation of sensitivity of TaqMan RT-PCR for rubella virus detection in clinical specimens
Kiyoko Okamoto, Yoshio Mori, Rika Komagome, et al.
Journal of Clinical Virology : the Official Publication of the Pan American Society for Clinical Virology
|
August 16, 2016
Corrigendum to "Evaluation of sensitivity of TaqMan RT-PCR for rubella virus detection in clinical specimens" [J. Clin. Virol. 80 (2016) 98-101]
Kiyoko Okamoto, Yoshio Mori, Rika Komagome, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2007
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
International Journal of Hematology
|
December 14, 2022
Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome
Masahiro Irie, Tetsuya Niihori, Tomohiro Nakano, et al.
Nature Genetics
|
February 14, 2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori, Yoko Aoki, Yoko Narumi, et al.
Cancer Medicine
|
April 18, 2025
Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study
Hidekazu Shirota, Akimitsu Miyake, Maako Kawamura, et al.
Human Genetics
|
December 31, 2015
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations
Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, et al.
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Search research articles
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Showing results (221-230 of 255) with videos related to
Sort By:
Page
of 26
Annals of Neurology
|
April 5, 2019
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2020
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia
Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
American Journal of Human Genetics
|
June 25, 2013
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, et al.
Journal of Clinical Virology : the Official Publication of the Pan American Society for Clinical Virology
|
June 1, 2016
Evaluation of sensitivity of TaqMan RT-PCR for rubella virus detection in clinical specimens
Kiyoko Okamoto, Yoshio Mori, Rika Komagome, et al.
Journal of Clinical Virology : the Official Publication of the Pan American Society for Clinical Virology
|
August 16, 2016
Corrigendum to "Evaluation of sensitivity of TaqMan RT-PCR for rubella virus detection in clinical specimens" [J. Clin. Virol. 80 (2016) 98-101]
Kiyoko Okamoto, Yoshio Mori, Rika Komagome, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2007
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
International Journal of Hematology
|
December 14, 2022
Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome
Masahiro Irie, Tetsuya Niihori, Tomohiro Nakano, et al.
Nature Genetics
|
February 14, 2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori, Yoko Aoki, Yoko Narumi, et al.
Cancer Medicine
|
April 18, 2025
Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study
Hidekazu Shirota, Akimitsu Miyake, Maako Kawamura, et al.
Human Genetics
|
December 31, 2015
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations
Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, et al.
Page
of 26