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Research Interests

Papers共 796 篇Author StatisticsCo-AuthorSimilar Experts

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期刊级别
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Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: from Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
Neringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, Lindsey Van Haute, Christian D Mutti,Enrico Bugiardini, Takayuki Handa,Masaru Shimura,Axel Petzold,James Acheson, Anthony G Robson, William L Macken, Michael G Hanna, Robert D S Pitceathly,Ashirwad Merve,Urania Kotzaeridou,Stefan Kölker, Michael Freilinger, Marcus Erdler, Reginald E Bittner,Johannes A Mayr,Yasushi Okazaki,Kei Murayama,Holger Prokisch, Andrew R Webster,Michal Minczuk,Gavin Arno,Berthold Pemp,Georg F Hoffmann, Wolfgang M Schmidt, Patrick Yu-Wai-Man
Investigative ophthalmology & visual scienceno. 6 (2025): 17-17
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A Girl with Intragenic Variants in MARS2 and a Chondrodysplasia Phenotype
Hiroyuki Iijima,Yuko Tsujioka,Yoshiyuki Tsutsumi,Gen Nishimura,Yasushi Okazaki,Kei Murayama, Mitsuru Kubota,Akira Ohtake
Molecular genetics and metabolism reports (2025): 101198-101198
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Role of BOLA3 in the Mitochondrial Fe-S Cluster Clarified by Metabolomic Analysis
Hiroyuki Iijima, Atsuko Imai-Okazaki, Yoshihito Kishita,Ayumu Sugiura,Masaru Shimura,Kei Murayama,Yasushi Okazaki,Akira Ohtake
Molecular genetics and metabolismno. 2 (2025): 109113-109113
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Author Statistics

#Papers: 796

#Citation: 26247

H-Index: 70

G-Index: 141

Sociability: 8

Diversity: 4

Activity: 47

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  • 学生
  • 导师
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