윤완희 (Oklahoma Medical Research Foundation)님 | 한빛사연구자 > 한빛사

Oklahoma Medical Research Foundation

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유전학

최종업데이트 2021.11.23.

- 윤완희(Oklahoma Medical Research Foundation)
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation
- Brain, Jan 18 2024, awae018 | https://doi.org/10.1093/brain/awae018
- 2024-01
- 생명과학
- 한빛사논문
- 윤완희(Oklahoma Medical Research Foundation)
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
- Am. J. Hum. Genet., Available online 19 November 2021 | https://doi.org/10.1016/j.ajhg.2021.11.003
- 2021-11
- 생명과학
- 한빛사논문
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
- Genome Med., Published: 12 April 2021, 13, Article number: 55 | https://doi.org/10.1186/s13073-021-00873-3
- 2021-04
- 생명과학
- 한빛사논문
- 윤완희(Baylor College of Medicine)
  Interview
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
- Am. J. Hum. Genet., Volume 102, Issue 3, 1 March 2018, Pages 494-504 | https://doi.org/10.1016/j.ajhg.2018.01.020
- 2018-03
- 생명과학
- 한빛사논문
- 윤완희(Baylor College of Medicine)
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
- Neuron, Available online 22 December 2016 | http://dx.doi.org/10.1016/j.neuron.2016.11.038
- 2016-12
- 생명과학
- 한빛사논문
- 윤완희(Baylor College of Medicine)
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
- Am. J. Hum. Genet., Available online 15 September 2016 | http://dx.doi.org/10.1016/j.ajhg.2016.08.007
- 2016-09
- 생명과학
- 한빛사논문
- 윤완희(Johns Hopkins University School of Medicine)
  Interview
miRNA-mediated feedback inhibition of JAK/STAT morphogen signalling establishes a cell fate threshold
- Nat. Cell Biol., 13, 1062–1069 (2011) | Published online21 August 2011 | doi:10.1038/ncb2316
- 2011-08
- 생명과학
- 한빛사논문

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