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1 . Academic Journal
The small CRL4CSA ubiquitin ligase component DDA1 regulates transcription-coupled repair dynamics
저자
by
Diana A. Llerena Schiffmacher
;
Shun-Hsiao Lee
;
Katarzyna W. Kliza
;
Arjan F. Theil
;
Masaki Akita
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
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7 . Academic Journal
Metabolomic analysis of dietary‐restriction‐induced attenuation of sarcopenia in prematurely aging DNA repair‐deficient mice
저자
by
Yupeng He
;
Wei Yang
;
Luojiao Huang
;
Marlien Admiraal‐van Mever
;
Rawi Ramautar
, et al.
소스
Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 3, Pp 868-882 (2024)
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7 . Academic Journal
Molecular Basis of the Schuurs–
Hoeijmakers
Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
저자
by
María Arnedo
;
Ángela Ascaso
;
Ana Latorre-Pellicer
;
Cristina Lucia-Campos
;
Marta Gil-Salvador
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9649 (2022)
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7 . Academic Journal
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
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by
Antonio Atalaia
;
Dagmar Wandrei
;
Nawel Lalout
;
Rachel Thompson
;
Adrian Tassoni
, et al.
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Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
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7 . Academic Journal
Development, validation and feasibility of a Patient Satisfaction Questionnaire for evaluating the quality performance of a diagnostic small fibre neuropathy service: A qualitative study
저자
by
Margot Geerts
;
Janneke G. J. Hoeijmakers
;
Brigitte A. B. Essers
;
Ingemar S. J. Merkies
;
Catharina G. Faber
, et al.
소스
Health Expectations, Vol 27, Iss 2, Pp n/a-n/a (2024)
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7 . Academic Journal
Decreased hepatic thyroid hormone signaling in systemic and liver-specific but not brain-specific accelerated aging due to DNA repair deficiency in mice
저자
by
Sander Barnhoorn
;
Marcel E Meima
;
Robin P Peeters
;
Veerle M Darras
;
Selmar Leeuwenburgh
, et al.
소스
European Thyroid Journal, Vol 12, Iss 6, Pp 1-10 (2023)
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7 . Academic Journal
Patient satisfaction and patient accessibility in a small fiber neuropathy diagnostic service in the Netherlands: A single-center, prospective, survey-based cohort study.
저자
by
Margot Geerts
;
Janneke G J Hoeijmakers
;
Brigitte A B Essers
;
Ingemar S J Merkies
;
Catharina G Faber
, et al.
소스
PLoS ONE, Vol 19, Iss 4, p e0298881 (2024)
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7 . Academic Journal
Schuurs–
Hoeijmakers
Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
저자
by
Jair Tenorio-Castaño
;
Beatriz Morte
;
Julián Nevado
;
Víctor Martinez-Glez
;
Fernando Santos-Simarro
, et al.
소스
Genes, Vol 12, Iss 5, p 738 (2021)
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7 . Academic Journal
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases
저자
by
Kaalindi Misra
;
Milena Ślęczkowska
;
Silvia Santoro
;
Monique M. Gerrits
;
Elisabetta Mascia
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 13, p 7248 (2024)
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7 . Report
Neutral Iron Emission Lines From The Day-side Of KELT-9b -- The GAPS Programme With HARPS-N At TNG XX
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by
Pino, L.
;
Désert, J. M.
;
Brogi, M.
;
Malavolta, L.
;
Wyttenbach, A.
, et al.
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