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Molecular Genetics and Metabolism
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May 11, 2025
Dual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury
Keisuke Kakisaka, Takuro Sato, Yasunori Wada, et al.
International Journal of Molecular Sciences
|
July 13, 2024
Genetic Analysis of <i>SCN11A</i>, <i>SCN10A</i>, and <i>SCN9A</i> in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria
Atsuko Noguchi, Tohru Tezuka, Hiroko Okuda, et al.
Plos One
|
December 18, 2018
Familial episodic limb pain in kindreds with novel Nav1.9 mutations
Risako Kabata, Hiroko Okuda, Atsuko Noguchi, et al.
Journal of Medical Genetics
|
November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.
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Search research articles
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Showing results (111-120 of 114) with videos related to
Sort By:
Page
of 12
You have reached the last page of results.
This site can display upto 114 results.
Molecular Genetics and Metabolism
|
May 11, 2025
Dual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury
Keisuke Kakisaka, Takuro Sato, Yasunori Wada, et al.
International Journal of Molecular Sciences
|
July 13, 2024
Genetic Analysis of <i>SCN11A</i>, <i>SCN10A</i>, and <i>SCN9A</i> in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria
Atsuko Noguchi, Tohru Tezuka, Hiroko Okuda, et al.
Plos One
|
December 18, 2018
Familial episodic limb pain in kindreds with novel Nav1.9 mutations
Risako Kabata, Hiroko Okuda, Atsuko Noguchi, et al.
Journal of Medical Genetics
|
November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.
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of 12