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Results: 1-6 |
Results: 6
Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene
Authors: Schwartz, Charles E. May, Melanie M. Carpenter, Nancy J. Rogers, CUris R. Martin, Judith Bialer, Martin G. Ward, Jewell Sananbria, Javier Marsa, Silvana Lewis, James A. Echeverri, Roberto Lubs, Herbert A. Voeller, Kytja Simensen, Richard J. Stevenson, Roger E.
Citation: E. Schwartz, Charles et al., Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene, American journal of human genetics , 77(1), 2005, pp. 41-53
Allan-Herndon syndrome. I. Clinical studies.
Authors: Stevenson, Roger E. Goodman, Harold O. Schwartz, Charles E. Simensen, Richard J. McLean, William T. Jr Herndon, C. Nash
Citation: E. Stevenson, Roger et al., Allan-Herndon syndrome. I. Clinical studies., American journal of human genetics , 47-I(3), 1990, pp. 446-453
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
Authors: Schwartz, Charles E. Ulmer, Joan Brown, Angela Pancoast, Ian Goodman, Harold O. Stevenson, Roger E.
Citation: E. Schwartz, Charles et al., Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21., American journal of human genetics , 47-I(3), 1990, pp. 454-458
Molecular and cytogenetic characterization of a De novo (5p;2lq) in a patient previously diagnosed as monosomy 21
Authors: Phelan,Mary C. Morton, Cynthia C. Stevenson, Roger E. Tanzi, Rudolph E. Stewart, Gordon D. Watkins, Paul C. Gusella, James F. Amos, Jean A.
Citation: C. Phelan,mary et al., Molecular and cytogenetic characterization of a De novo (5p;2lq) in a patient previously diagnosed as monosomy 21, American journal of human genetics , 43-II(4), 1988, pp. 511-519
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
Authors: Lubs, Herbert A. Stevenson, Roger E. Schwartz, Charles E.
Citation: A. Lubs, Herbert et al., Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery, American journal of human genetics (Online) AJHG , 90(4), 2012, pp. 579-590
Detection of submicroscopic deletions in band 17p13 in patients with the miller-dieker syndrome
Authors: Schwartz, Charles E. Johnson, John P. Holycross,Bridget Mandeville, Tracy M. Sears, Tena S. Graul, Elizabeth A. Carey, John C. Schroer, Richard J. Phelan, Mary C. Szollar, Judith Flannery, David B. Stevenson, Roger E.
Citation: E. Schwartz, Charles et al., Detection of submicroscopic deletions in band 17p13 in patients with the miller-dieker syndrome, American journal of human genetics , 43-II(5), 1988, pp. 597-604
Risultati: 1-6 |