Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

Por Kalscheuer, Vera M., James, Victoria M., Himelright, Miranda L., Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A., Topf, Maya, Hoogeboom, A. Jeannette M., Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J.
Publicado no Front Mol Neurosci (2016)

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

Por Srebniak, Malgorzata I, Boter, Marjan, Oudesluijs, Gretel O, Cohen-Overbeek, Titia, Govaerts, Lutgarde CP, Diderich, Karin EM, Oegema, Renske, Knapen, Maarten FCM, van de Laar, Ingrid MBH, Joosten, Marieke, Van Opstal, Diane, Galjaard, Robert-Jan H
Publicado em 2012

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Por Oegema, Renske, Cushion, Thomas D., Phelps, Ian G., Chung, Seo-Kyung, Dempsey, Jennifer C., Collins, Sarah, Mullins, Jonathan G.L., Dudding, Tracy, Gill, Harinder, Green, Andrew J., Dobyns, William B., Ishak, Gisele E., Rees, Mark I., Doherty, Dan
Publicado no Hum Mol Genet (2015)

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Por Verbeek, Elly, Meuwissen, Marije EC, Verheijen, Frans W, Govaert, Paul P, Licht, Daniel J, Kuo, Debbie S, Poulton, Cathryn J, Schot, Rachel, Lequin, Maarten H, Dudink, Jeroen, Halley, Dicky J, de Coo, René IF, den Hollander, Jan C, Oegema, Renske, Gould, Douglas B, Mancini, Grazia MS
Publicado em 2012

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

Por Kheradmand Kia, Sima, Verbeek, Elly, Engelen, Erik, Schot, Rachel, Poot, Raymond A., de Coo, Irenaeus F.M., Lequin, Maarten H., Poulton, Cathryn J., Pourfarzad, Farzin, Grosveld, Frank G., Brehm, António, de Wit, Marie Claire Y., Oegema, Renske, Dobyns, William B., Verheijen, Frans W., Mancini, Grazia M.S.
Publicado em 2012