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Results:
1-16
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Results: 16
Authors:
Zeng, Wen-Qi
Al-Yamani, Eiman
Acierno, James S. Jr.
Slaugenhaupt, Susan
Gillis, Tammy
MacDonald, Marcy E.
Ozand, Pinar T.
Gusella, James F.
Citation: Zeng, Wen-qi et al., Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3, American journal of human genetics , 77(1), 2005, pp. 16-26
Authors:
Fountain, Jane W.
Wallace, Margaret R.
Brereton, Anne M.
O'Connell, Peter
White, Raymond L.
Rich, Donna C.
Ledbetter, David H.
Leach, Robin J.
Fournier, R. E. Keith
Menon, Anil G.
Gusella, James F.
Barker, David
Stephens, Karen
Collins, Francis S.
Citation: W. Fountain, Jane et al., Physical mapping of the von recklinghausen neurofibromatosis region on chromosome 17, American journal of human genetics , 44(1), 1989, pp. 58-67
Authors:
Ramesh, Vijaya
Benoit, Lynne A.
Crawford, Patricia
Harvey, Patricia T.
Shows, Thomas B.
Shih, Vivian E.
Gusella, James F.
Citation: Ramesh, Vijaya et al., The ornithine aminotransferase (OAT) locus: analysis of RFLP in gyrate atrophy, American journal of human genetics , 42(2), 1988, pp. 365-372
Authors:
Kwiatkowski, David J.
Ozelius, Laurie
Kramer, Patricia L.
Perman, Scott
Schuback, Deborah E.
Gusella, James F.
Fahn, Stanley
Breakefield, Xandra O.
Citation: J. Kwiatkowski, David et al., Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34., American journal of human genetics , 49-I(2), 1991, pp. 366-371
Authors:
Talkowski, Michael E.
Ernst, Carl
Heilbut, Adrian
Chiang, Colby
Gusella, James F.
Citation: E. Talkowski, Michael et al., Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 469-481
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
Authors:
Münke, Maximilian
Foellmer, Brigitte
Watkins, Paul C.
Cowan, Janet M.
Carroll, Andrew J.
Gusella, James F.
Francke, Uta
Citation: Münke, Maximilian et al., Regional assignment of six polymorphic DNA sequences on chromosome 21 by In situ hybridization to normal and rearranged chromosomes, American journal of human genetics , 42(4), 1988, pp. 542-549
Authors:
Tanzi, Rudolph E.
Watkins, Paul C.
Stewart, Gordon D.
Wexler, Nancy S.
Gusella, James F.
Haines, Jonathan L.
Citation: E. Tanzi, Rudolph et al., A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age., American journal of human genetics , 50-I(3), 1992, pp. 551-558
Authors:
Myers, Richard H.
Leavitt, Julie
Farrer, Lindsay A.
Jagadeesh, Jaya
McFarlane, Heather
Mastromauro, Carol A.
Mark, Raymond J.
Gusella, James F.
Citation: H. Myers, Richard et al., Homozygote for huntington disease, American journal of human genetics , 45-I(4), 1989, pp. 615-618
Authors:
Ozelius, Laurie J.
Kramer, Patricia L.
de Leon, Deborah
Risch, Neil
Bressman, Susan B.
Schuback, Deborah E.
Brin, Mitchell F.
Kwiatkowski, David J.
Burke, Robert E.
Gusella, James F.
Fahn, Stanley
Breakefield, Xandra O.
Citation: J. Ozelius, Laurie et al., Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews, American journal of human genetics , 50-I(3), 1992, pp. 619-628
Authors:
MacDonald, Marcy E.
Lin, Carol
Srinidhi, Lakshmi
Bates, Gillian
Altherr, Michael
Whaley, W. Lance
Lehrach, Hans
Wasmuth, John
Gusella, James F.
Citation: E. Macdonald, Marcy et al., Complex patterns of linkage disequilibrium in the Huntington disease region., American journal of human genetics , 49-II(4), 1991, pp. 723-734
Authors:
Haines, Jonathan L.
Short, M. Priscilla
Kwiatkowski, David J.
Jewell, Ann
Andermann, Eva
Bejjani, Bassem
Yang, Ching-Hwa
Gusella, James F.
Amos, Jean A.
Citation: L. Haines, Jonathan et al., Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity., American journal of human genetics , 49-II(4), 1991, pp. 764-772
Authors:
McClatchey, Andrea I.
Kaufman, Daniel L.
Berson, Eliot L.
Tobin, Allan J.
Shih, Vivian E.
Gusella, James F.
Ramesh, Vijaya
Citation: I. Mcclatchey, Andrea et al., Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy., American journal of human genetics , 47-II(5), 1990, pp. 790-794
Authors:
Fontaine, Bertrand
Rouleau, Guy A.
Seizinger, Bernd
Jewell, Ann F.
Hanson, Mark P.
Martuza, Robert L.
Gusella, James F.
Citation: Fontaine, Bertrand et al., Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting., American journal of human genetics , 47-II(5), 1990, pp. 823-827
Authors:
McClatchey, Andrea I.
Trofatter, James
McKenna-Yasek, Diane
Raskind, Wendy
Bird, Thomas
Pericak-Vance, Margaret
Gilchrist, James
Arahata, Kiichi
Radosavljevic, Danica
Worthen, Hilary G.
Van den Bergh, Peter
Haines, Jonathan L.
Gusella, James F.
Brown, Robert H.
Citation: I. Mcclatchey, Andrea et al., Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita, American journal of human genetics , 50-II(5), 1992, pp. 896-901
Authors:
Altherr, Michael R.
Bengtsson, Ulla
Elder, Fred F. B.
Ledbetter, David H.
Wasmuth, John J
McDonald, Marcy E.
Gusella, James F.
Greenberg, Frank
Citation: R. Altherr, Michael et al., Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4., American journal of human genetics , 49-II(5), 1991, pp. 1235-1242
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1-16
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