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Mihaela Pupavac

Showing results (11-20 of 14) with videos related to

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Clinical Epigenetics|April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
Nature Communications|February 4, 2018
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Nature Communications|January 6, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
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Showing results (11-20 of 14) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 14 results.
Clinical Epigenetics|April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
Nature Communications|February 4, 2018
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
Nature Communications|January 6, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patientsJean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, et al.
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