Toshiki Takenouchi

Japan

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Articles (10)

Year:

2023

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2023

Year:

2023

Year:

2023

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2023

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2023

Year:

2022

Year:

2022

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2022

Year:

2022

Collaborators (4)

Kazuo Imagawa

Lecturer

University of Tsukuba

JAPAN

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Kana Aoki

Osaka University

JAPAN

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Atsushi Hijikata

Associate Professor

Tokyo University of Pharmacy and Life Sciences

JAPAN

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Kenjiro Kosaki

Professor

Keio University

JAPAN

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Toshiki Takenouchi

Research Interests

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Articles (10)

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy

A novel variant of ARPC4-related neurodevelopmental disorder

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report

Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence

De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments

Collaborators (4)

Kazuo Imagawa

Kana Aoki

Atsushi Hijikata

Kenjiro Kosaki

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