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Results: 1-8 |
Results: 8
In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA
Authors: Montanaro, Vittorio Casamassimi, Amelia D'Urso, Michele Yoon, Jae-Young Freije, Wadiha Schlessinger, David Muenke, Maximilian Nussbaum, Robert L. Saccone, Salvatore Maugeri, Silvana Santoro, Anna Maria Motta, Salvatore Della Valle, Giuliano
Citation: Montanaro, Vittorio et al., In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA, American journal of human genetics , 48-I(2), 1991, pp. 183-194
New polymorphisms at the dxs98 locus and confirmation of its location proximal to fraxa by in situ hybridization
Authors: Schnur, Rhonda E Ledbetter, Susan A. Ledbetter, David H. Merry, Diane E. Nussbaum, Robert L.
Citation: E. Schnur, Rhonda et al., New polymorphisms at the dxs98 locus and confirmation of its location proximal to fraxa by in situ hybridization, American journal of human genetics , 44(2), 1989, pp. 248-254
Regulation of .-Synuclein Expression by Poly (ADP Ribose) Polymerase-1 (PARP-1) Binding to the NACP-Rep1 Polymorphic Site Upstream of the SNCA Gene
Authors: Chiba-Falek, Ornit Kowalak, Jeffrey A. Smulson, Mark E. Nussbaum, Robert L.
Citation: Chiba-falek, Ornit et al., Regulation of .-Synuclein Expression by Poly (ADP Ribose) Polymerase-1 (PARP-1) Binding to the NACP-Rep1 Polymorphic Site Upstream of the SNCA Gene, American journal of human genetics , 76(3), 2005, pp. 478-492
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21
Authors: Merry, Diane E. Lesko, John G. Sosnoski, Donna M. Lewis, Richard A. Lubinsky, Mark Trask, Barbara van den Engh, Ger Collins, Francis S. Nussbaum, Robert L.
Citation: E. Merry, Diane et al., Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21, American journal of human genetics , 45-I(4), 1989, pp. 530-540
An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size using cloned DNA probes and flow cytometry
Authors: Schnur, Rhonda E. Trask, Barbara J. van den Engh, Ger Punnett, Hope H. Kistenmacher, Mildred Tomeo, Michael A. Naids, Richard E. Nussbaum, Robert L.
Citation: E. Schnur, Rhonda et al., An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size using cloned DNA probes and flow cytometry, American journal of human genetics , 45-II(5), 1989, pp. 706-720
X-linked severe combined immunodeficiency: localization within the region xq13.1-q21.1 by linkage and deletion analysis
Authors: Puck, Jennifer M. Nussbaum, Robert L. Smead, Deborah L. Conley, Mary Ellen
Citation: M. Puck, Jennifer et al., X-linked severe combined immunodeficiency: localization within the region xq13.1-q21.1 by linkage and deletion analysis, American journal of human genetics , 44(5), 1989, pp. 724-730
Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.
Authors: Puck, Jennifer M. Stewart, Christine C. Nussbaum, Robert L.
Citation: M. Puck, Jennifer et al., Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency., American journal of human genetics , 50-II(4), 1992, pp. 742-748
Tightly linked flanking markers for the lowe oculocerebrorenal syndrome, with application to carrier assessment
Authors: Reilly, Dorothy Silver Lewis, Richard Alan Ledbetter, David H. Nussbaum, Robert L.
Citation: Reilly, Dorothy Silver et al., Tightly linked flanking markers for the lowe oculocerebrorenal syndrome, with application to carrier assessment, American journal of human genetics , 42(5), 1988, pp. 748-755
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