Výsledky vyhledávání - "Jirair Bedoyan"

Akademický článek

P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)

Autor: Anisha Verma, April Lehman, Lorna Cropcho, Danielle Black, Steven Dobrowolski, Jerry Vockley, Jirair Bedoyan

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100049- (2023)

Externí odkaz: https://doaj.org/article/ac0d6564f9684dd38a8a8de528c805bb

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Akademický článek

P257: A single institution analysis of in-house whole genome sequencing within pediatric and neonatal intensive care units (The PISCES Study)

Autor: Peter Nelson, Cate Walsh Vockley, Georgianne Arnold, Jirair Bedoyan, Amina Kunovac, Lindsey Kelly, Dara Kozak, Alexander Yatsenko, Jennifer Atkinson, Adrian Lee, Daniel Bellissimo, Jerry Vockley, Lina Ghaloul-Gonzalez

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100285- (2023)

Externí odkaz: https://doaj.org/article/36553b7314034c7c880095f365d79d25

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ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDOSIS COMPLICATED BY INTRAUTERINE GROWTH RESTRICTION AND HYPOXIC-ISCHEMIC ENCEPHALOPATHY

Autor: Mari Mori, Caterina Abdala Villa, Michael Zinsmeister, Melissa Hutchinson, Jirair Bedoyan, Miriam Conces, Diana Thomas, Ahmed Osman, Dennis Bartholomew

Publikováno v: Molecular Genetics and Metabolism. 138:107463

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::02b39551523043ddbf6157452215d0ec
https://doi.org/10.1016/j.ymgme.2023.107463

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RETROSPECTIVE EVALUATION OF SPECIFIC AMINO ACID RATIOS FOR SCREENING AND DIAGNOSTIC UTILITY FOR PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDCD) AND OTHER MITOCHONDRIAL DISORDERS (MTDS)

Autor: April Lehman, Anisha Verma, Lorna Cropcho, Danielle Black, Steven Dobrowolski, Jerry Vockley, Jirair Bedoyan

Publikováno v: Molecular Genetics and Metabolism. 138:107443

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a00928f8c231d694c5a0c32f31320d1
https://doi.org/10.1016/j.ymgme.2023.107443

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Review for 'Loss of mitochondrial fatty acid β‐oxidation protein short‐chain Enoyl‐CoA hydratase disrupts oxidative phosphorylation protein complex stability and function'

Autor: Jirair Bedoyan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44ee10e0d9092c60b00b01374279614
https://doi.org/10.1111/febs.16595/v1/review2

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SOLVENT ACCESSIBILITY OF E1α AND E1β RESIDUES WITH KNOWN MISSENSE MUTATIONS CAUSING PYRUVATE DEHYDROGENASE COMPLEX (PDC) DEFICIENCY: IMPACT ON PDC-E1 STRUCTURE AND FUCNTION AND SMALL MOLECULE THERAPEUTIC OPTIONS FOR THIS DISORDER

Autor: Nicole Ducich, Jason Mears, Jirair Bedoyan

Publikováno v: Molecular Genetics and Metabolism. 135:268-269

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5be82adac330856ffd40a9ac67b49dc9
https://doi.org/10.1016/j.ymgme.2022.01.034

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DNA repair in a small yeast plasmid folded into chromatin

Autor: Fritz Thoma, Jirair Bedoyan, Michael J. Smerdon

Publikováno v: Nucleic acids research. 18(8)

The question of whether excision repair of yeast plasmids accurately reflects the repair of yeast genomic chromatin has yielded conflicting answers. These conflicts could have arisen from differences in the conformation of plasmid molecules used duri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::080fdcfcf07dbd0e52f8645d7e79e3bb
https://pubmed.ncbi.nlm.nih.gov/2186374

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