Authors:
O.Driscoll, Mark
Dobyns, William B.
Van Hagen, Johanna M.
Jeggo, Penny A.
Citation: O.driscoll, Mark et al., The Nuclear Factor .B.Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset, American journal of human genetics , 81(1), 2007, pp. 77-86
Authors:
Ledbetter, Susan A.
Kuwano, Akira
Dobyns, William B.
Ledbetter, David H.
Citation: A. Ledbetter, Susan et al., Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly., American journal of human genetics , 50-I(1), 1992, pp. 182-189
Authors:
Dobyns, William B.
Curry, Cynthia J.R.
Hoyme, Eugene
Turlington, Laura
Ledbetter, David H.
Citation: B. Dobyns, William et al., Clinical and molecular diagnosis of Miller-Dieker syndrome., American journal of human genetics , 48-I(3), 1991, pp. 584-594
Authors:
Tuinen, Peter van
Dobyns, William B.
Rich, Donna C.
Summers, Kim M.
Robinson, Terence J.
Nakamura, Y.
Ledbetter, David H.
Citation: Tuinen, Peter Van et al., Molecular detection of microscopic and submicroscopic deletions associated with miller-dieker syndrome, American journal of human genetics , 43-II(5), 1988, pp. 587-596
Authors:
Kuwano, Akira
Ledbetter, Susan A.
Dobyns, William B.
Emanuel, Beverly S.
Ledbetter, David H.
Citation: Kuwano, Akira et al., Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization., American journal of human genetics , 49-II(4), 1991, pp. 707-714
Authors:
Cardoso, Carlos
Leventer, Richard J.
Ward, Heather L.
Toyo-oka, Kazuhito
Chung, June
Gross, Alyssa
Martin, Christa L.
Allanson, Judith
Pilz, Daniela T.
Olney, Ann H.
Mutchinick, Osvaldo M.
Hirotsune, Shinji
Wynshaw-Boris, Anthony
Dobyns, William B.
Ledbetter, David H.
Citation: Cardoso, Carlos et al., Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3, American journal of human genetics , 72(4), 2003, pp. 918-930
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
Authors:
Greenberg, Frank
Guzzetta, Vito
de Oca-Luna, Roberto Montes
Magenis, R. Ellen
Smith, A. C. M.
Richter, Sarah F.
Kondo, Ikuko
Dobyns, William B.
Patel, Pragna I.
Lupski, James R.
Citation: Greenberg, Frank et al., Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)., American journal of human genetics , 49-II(5), 1991, pp. 1207-1218