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Ryo Funayama

Showing results (71-80 of 79) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2018
Biallelic GALM pathogenic variants cause a novel type of galactosemiaYoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
Annals of Neurology|April 5, 2019
Recurrent de novo MAPK8IP3 variants cause neurological phenotypesShinya 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 galactosemiaYoichi 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 syndromeYoko Aoki, Tetsuya Niihori, Toshihiro Banjo, et al.
Stem Cell Reports|May 28, 2021
Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutationsShio Mitsuzawa, Naoki Suzuki, Tetsuya Akiyama, et al.
Ebiomedicine|July 3, 2019
Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neuronsTetsuya Akiyama, Naoki Suzuki, Mitsuru Ishikawa, et al.
Journal of Human Genetics|February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese populationKoichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Gastroenterology|January 14, 2020
Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic PancreatitisAtsushi Masamune, Hiroshi Kotani, Franziska Lena Sörgel, et al.
Nature Communications|May 19, 2018
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatmentShazia Ashraf, Hiroki Kudo, Jia Rao, et al.
Pageof 8

Showing results (71-80 of 79) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 79 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2018
Biallelic GALM pathogenic variants cause a novel type of galactosemiaYoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
Annals of Neurology|April 5, 2019
Recurrent de novo MAPK8IP3 variants cause neurological phenotypesShinya 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 galactosemiaYoichi 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 syndromeYoko Aoki, Tetsuya Niihori, Toshihiro Banjo, et al.
Stem Cell Reports|May 28, 2021
Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutationsShio Mitsuzawa, Naoki Suzuki, Tetsuya Akiyama, et al.
Ebiomedicine|July 3, 2019
Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neuronsTetsuya Akiyama, Naoki Suzuki, Mitsuru Ishikawa, et al.
Journal of Human Genetics|February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese populationKoichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Gastroenterology|January 14, 2020
Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic PancreatitisAtsushi Masamune, Hiroshi Kotani, Franziska Lena Sörgel, et al.
Nature Communications|May 19, 2018
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatmentShazia Ashraf, Hiroki Kudo, Jia Rao, et al.
Pageof 8