Einträge von Dobyns, William B. auf dem Publikationsserver

Brock, Stefanie , Vanderhasselt, Tim , Vermaning, Sietske, Keymolen, Kathelijn , Régal, Luc , Romaniello, Romina , Wieczorek, Dagmar , Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B., Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb , Leventer, Richard J., Mirzaa, Ghayda, Dobyns, William B. , Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C. und Stouffs, Katrien (2020) Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of Medical Genetics 58 (1), S. 33-40. Volltext nicht vorhanden.

Oegema, Renske , Barakat, Tahsin Stefan , Wilke, Martina, Stouffs, Katrien , Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio , Fry, Andrew E. , Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana , Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S. , Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo , Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C. , Mancini, Grazia M. S. und Di Donato, Nataliya (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology 16 (11), S. 618-635. Volltext nicht vorhanden.

Twigg, Stephen R. F. , Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J. , Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B. , Curry, Cynthia J., Jones, Marilyn C. und Wilkie, Andrew O. M. (2016) A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. The American Journal of Human Genetics 98 (6), S. 1256-1265. Volltext nicht vorhanden.

Di Donato, N., Neuhann, T., Kahlert, A.-K., Klink, B., Hackmann, K., Neuhann, I., Weber, Bernhard H. F. , Schrock, Evelin, Dobyns, William B. , Bier, Andrea und Rump, Andreas (2016) Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics 53 (6), S. 419-425. Volltext nicht vorhanden.

Cushion, Thomas D. , Dobyns, William B. , Mullins, Jonathan G. L. , Stoodley, Neil, Chung, Seo-Kyung , Fry, Andrew E., Hehr, Ute, Gunny, Roxana, Aylsworth, Arthur S., Prabhakar, Prab, Uyanik, Gökhan, Rankin, Julia, Rees, Mark I. und Pilz, Daniela T. (2013) Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136 (2), S. 536-548. Volltext nicht vorhanden.

Cantagrel, Vincent , Lefeber, Dirk J., Ng, Bobby G., Guan, Ziqiang, Silhavy, Jennifer L., Bielas, Stephanie L. , Lehle, Ludwig, Hombauer, Hans , Adamowicz, Maciej, Swiezewska, Ewa, De Brouwer, Arjan P., Blümel, Peter, Sykut-Cegielska, Jolanta, Houliston, Scott, Swistun, Dominika, Ali, Bassam R. , Dobyns, William B. , Babovic-Vuksanovic, Dusica, van Bokhoven, Hans , Wevers, Ron A. , Raetz, Christian R.H., Freeze, Hudson H. , Morava, Éva, Al-Gazali, Lihadh und Gleeson, Joseph G. (2010) SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder. Cell 142 (2), S. 203-217. Volltext nicht vorhanden.