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1 . Academic Journal
Phenotypic continuum of NFU1‐related disorders
저자
by
Rauan Kaiyrzhanov
;
Maha S. Zaki
;
Tracy Lau
;
Sambuddha Sen
;
Reza Azizimalamiri
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
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7 . Academic Journal
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
저자
by
Kyle Thompson
;
Lucas Bianchi
;
Francesca Rastelli
;
Florence Piron-Prunier
;
Sophie Ayciriex
, et al.
소스
HGG Advances, Vol 3, Iss 2, Pp 100097- (2022)
Full Text (Clinical Key)
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7 . Academic Journal
Unlocking the potential of gaming for anticipatory governance
저자
by
Joost Vervoort
;
Astrid Mangnus
;
Steven McGreevy
;
Kazuhiko Ota
;
Kyle Thompson
, et al.
소스
Earth System Governance, Vol 11, Iss , Pp 100130- (2022)
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7 . Academic Journal
Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes
저자
by
Silvia Vidali
;
Raffaele Gerlini
;
Kyle Thompson
;
Jill E Urquhart
;
Jana Meisterknecht
, et al.
소스
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
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7 . Academic Journal
Measuring the Time Atoms Spend in the Excited State Due to a Photon They Do Not Absorb
저자
by
Josiah Sinclair
;
Daniela Angulo
;
Kyle Thompson
;
Kent Bonsma-Fisher
;
Aharon Brodutch
, et al.
소스
PRX Quantum, Vol 3, Iss 1, p 010314 (2022)
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7 . Academic Journal
Expanding the clinical phenotype of IARS2-related mitochondrial disease
저자
by
Barbara Vona
;
Reza Maroofian
;
Emanuele Bellacchio
;
Maryam Najafi
;
Kyle Thompson
, et al.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-16 (2018)
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7 . Academic Journal
Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
저자
by
Ahmad Alahmad
;
Alessia Nasca
;
Juliana Heidler
;
Kyle Thompson
;
Monika Oláhová
, et al.
소스
EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
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7 . Academic Journal
Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency
저자
by
Yi Shiau Ng
;
Kyle Thompson
;
Daniela Loher
;
Sila Hopton
;
Gavin Falkous
, et al.
소스
Frontiers in Genetics, Vol 11 (2020)
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7 . Academic Journal
Multispecies sustainability
저자
by
Christoph D. D. Rupprecht
;
Joost Vervoort
;
Chris Berthelsen
;
Astrid Mangnus
;
Natalie Osborne
, et al.
소스
Global Sustainability, Vol 3 (2020)
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7 . Academic Journal
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways
저자
by
Thomas Agnew
;
Michelle Goldsworthy
;
Carlos Aguilar
;
Anna Morgan
;
Michelle Simon
, et al.
소스
Cell Reports, Vol 25, Iss 12, Pp 3315-3328.e6 (2018)
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