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Results: 1-3 |
Results: 3
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
Authors: Cushion, Thomas D. Paciorkowski, Alex R. Pilz, Daniela T.
Citation: D. Cushion, Thomas et al., De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy, American journal of human genetics (Online) AJHG , 94(4), 2014, pp. 634-641
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
Authors: Kashiyama, Kazuya Nakazawa, Yuka Pilz, Daniela T.
Citation: Kashiyama, Kazuya et al., Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia, American journal of human genetics (Online) AJHG , 92(5), 2013, pp. 807-819
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
Risultati: 1-3 |