نتائج البحث

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

• Authors : Esterhuizen K; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.; Lindeque JZ

Subjects: Mutation* ; Phenotype*; Deafness/Deafness/Deafness/*genetics Noninsulin-dependent diabetes mellitus with deafness

• Source: Metabolomics : Official journal of the Metabolomic Society [Metabolomics] 2021 Jan 12; Vol. 17 (1), pp. 10. Date of Electronic Publication: 2021 Jan 12.Publisher: Springer Country of Publication: United States NLM ID: 101274889 Publication Model: Electronic Cited Medium:

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NEURO-IMAGE: MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome).

• Authors : UCL - SSS/IONS/NEUR - Clinical Neuroscience; UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire; UCL - (SLuc) Service de neurologie

Subjects: MELAS; MRI; MRS

• Source: Acta neurologica Belgica, Vol. 122, no. 6, p. 1597-1598 (2022)

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NEURO-IMAGE: MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome).

• Authors : Pichon, Louise; Ivanoiu, Adrian; Duprez, Thierry ...

Subjects: MELAS; MRI; MRS

• Source: Acta neurologica Belgica, Vol. 122, no. 6, p. 1597-1598 (2022)

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Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death

• Authors : Hannah Gillespie; Yi Shiau Ng; Katrina M. Wood

Subjects: Mitochondrial disorders; Nephrotic syndrome; MELAS

• Source: Journal of Rare Diseases, Vol 4, Iss 1, Pp 1-9 (2025)

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Neutrino interaction vertex reconstruction in DUNE with Pandora deep learning

• Authors : Abud, A. Abed; Acciarri, R.; Acero, M. A. ...

Subjects: Neutrino interaction; vertex reconstruction; deep learning

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Real-World Outcomes of Patients Starting Intravenous and Transitioning to Subcutaneous Vedolizumab in Inflammatory Bowel Disease

• Authors : Lamichhane, N.; Melas, N.; Bergqvist, V.

Subjects: Inflammatory bowel disease; Vedolizumab; Real-world data

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Structural and thermal properties of pure and chromium doped zinc oxide nanoparticles

• Authors : Ababay Ketema Worku; Delele Worku Ayele; Nigus Gabbiye Habtu

Subjects: Chromium; Zinc oxide; Thermal stability

• Source: SN Applied Sciences, Vol 3, Iss 7, Pp 1-10 (2021)

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Reconstruction of interactions in the ProtoDUNE-SP detector with Pandora

• Authors : A. Abed Abud; B. Abi; R. Acciarri ...

Subjects: Settore FIS/01 - Fisica Sperimentale; Settore ING-INF/07 - Misure Elettriche e Elettroniche

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Reconstruction of interactions in the ProtoDUNE-SP detector with Pandora

• Authors : Abud, A. Abed; Abi, B.; Acciarri, R.

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Personal deposited dose and its influencing factors at several Greek sites: an analysis in respect to seasonal and diurnal variations

• Authors : Χαλβατζακη Ελευθερια(http://users.isc.tuc.gr/~echalvatzaki); Chalvatzaki Eleftheria(http://users.isc.tuc.gr/~echalvatzaki); Χατουτσιδου Σοφια-Ειρηνη(http://users.isc.tuc.gr/~sochatoutsidou)

Subjects: Dosimetry model; Deposition; Particulate matter

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