Authors:
Katsanis, Nicholas
Eichers, Erica R.
Ansley, Stephan J.
Lewis, Richard Alan
Kayserili, Hülya
Hoskins, Bethan E.
Scambler, Peter J.
Beales, Philip L.
Lupski, James R.
Citation: Katsanis, Nicholas et al., BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance, American journal of human genetics , 71(1), 2002, pp. 22-29
Authors:
Beltrán-Valero de Bernabé, Daniel
Currier, Sophie
Steinbrecher, Alice
Celli, Jacopo
Beusekom, Ellen, Van
Zwaag, Bert, Van: der
Kayserili, Hülya
Merlini, Luciano
Chitayat, David
Dobyns, William B.
Cormand, Bru
Lehesjoki, Ana-Elina
Cruces, Jesùs
Voit, Thomas
Walsh, Christopher A.
Bokhoven, Hans, Van
Brunner, Han G.
Citation: Beltrán-valero De Bernabé, Daniel et al., Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome, American journal of human genetics , 71(5), 2002, pp. 1033-1043