Modeling Genetic and Environmental Factors to Increase Heritability and Ease the Identification of Candidate Genes for Birth Weight: A Twin Study

por Gielen, M., Lindsey, P. J., Derom, C., Smeets, H. J. M., Souren, N. Y., Paulussen, A. D. C., Derom, R., Nijhuis, J. G.
Publicado 2007

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

por Gerards, M, Sluiter, W, van den Bosch, B J C, de Wit, L E A, Calis, C M H, Frentzen, M, Akbari, H, Schoonderwoerd, K, Scholte, H R, Jongbloed, R J, Hendrickx, A T M, de Coo, I F M, Smeets, H J M
Publicado 2009

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

por Shintaku, Jonathan, Pernice, Wolfgang M., Eyaid, Wafaa, GC, Jeevan B., Brown, Zuben P., Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W., Hellebrekers, Debby M.E.I., Blakely, Emma L., Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A., Rodenburg, Richard J., Chinnery, Patrick F., Smeets, H.J.M., Gorman, Gráinne S., Bonnen, Penelope E., Taylor, Robert W., Hirano, Michio
Publicado 2022