O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency

Authors: Meena Sethuraman, Erik Koppes, Kaitlyn Scola, Kaitlyn Bloom, Al-Walid Mohsen, Jerry Vockley

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 100873- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000190; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/6f9c4f4f1c77463993f8d73625ad267e

Mitochondrial dysfunction associated with TANGO2 deficiency

Authors: Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/bbd84a9f628544dc9e3cb0595985fc6f

Partial Loss of Genomic Imprinting Reveals Important Roles for Kcnq1 and Peg10 Imprinted Domains in Placental Development.

Authors: Erik Koppes, Katherine P Himes, J Richard Chaillet

Source: PLoS ONE, Vol 10, Iss 8, p e0135202 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/b977e0b175c74bb081213a2953d9c219

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