Preaxial polydactyly of the foot: Clinical and genetic implications for the orthopedic practice based on a literature review and 76 patients

by Elise B Burger, Martijn Baas, Steven E R Hovius, A Jeannette M Hoogeboom, Christianne A van Nieuwenhoven
Published 2018-01-01

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

by Vera M. Kalscheuer, Vera M. Kalscheuer, Victoria M. James, Miranda L. Himelright, Philip Long, Renske Oegema, Corinna Jensen, Melanie Bienek, Hao Hu, Stefan A. Haas, Maya Topf, A. Jeannette M. Hoogeboom, Kirsten Harvey, Randall Walikonis, Robert J. Harvey
Published 2016-01-01

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

by Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini
Published 2017-05-01

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

by Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Debbie van den Berg, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini
Published 2017-08-01