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Results: 1-8 |
Results: 8
The Nuclear Factor .B.Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset
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
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
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
Clinical and molecular diagnosis of Miller-Dieker syndrome.
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
Molecular detection of microscopic and submicroscopic deletions associated with miller-dieker syndrome
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
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
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
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
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
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
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
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
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
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