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R L Nussbaum

Showing results (41-50 of 115) with videos related to

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American Journal of Human Genetics|May 1, 1985
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21R L Nussbaum, R A Lewis, J G Lesko, et al.
Human Genetics|January 1, 1985
Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markersR L Nussbaum, R A Lewis, J G Lesko, et al.
The Journal of Clinical Investigation|October 1, 1988
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiencyA Maddalena, J E Spence, W E O'Brien, et al.
The New England Journal of Medicine|October 13, 1988
Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiencyA Maddalena, D M Sosnoski, G T Berry, et al.
Cell|April 8, 1994
Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndromeH Siomi, M Choi, M C Siomi, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 1, 1983
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in manR L Nussbaum, W E Crowder, W L Nyhan, et al.
American Journal of Human Genetics|May 1, 1988
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessmentD S Reilly, R A Lewis, D H Ledbetter, et al.
American Journal of Human Genetics|May 1, 1989
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysisJ M Puck, R L Nussbaum, D L Smead, et al.
American Journal of Human Genetics|September 1, 1985
Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activityE S Cantú, R L Nussbaum, S D Airhart, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomesI Okabe, O Attree, L C Bailey, et al.
Pageof 12

Showing results (41-50 of 115) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|May 1, 1985
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21R L Nussbaum, R A Lewis, J G Lesko, et al.
Human Genetics|January 1, 1985
Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markersR L Nussbaum, R A Lewis, J G Lesko, et al.
The Journal of Clinical Investigation|October 1, 1988
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiencyA Maddalena, J E Spence, W E O'Brien, et al.
The New England Journal of Medicine|October 13, 1988
Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiencyA Maddalena, D M Sosnoski, G T Berry, et al.
Cell|April 8, 1994
Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndromeH Siomi, M Choi, M C Siomi, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 1, 1983
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in manR L Nussbaum, W E Crowder, W L Nyhan, et al.
American Journal of Human Genetics|May 1, 1988
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessmentD S Reilly, R A Lewis, D H Ledbetter, et al.
American Journal of Human Genetics|May 1, 1989
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysisJ M Puck, R L Nussbaum, D L Smead, et al.
American Journal of Human Genetics|September 1, 1985
Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activityE S Cantú, R L Nussbaum, S D Airhart, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomesI Okabe, O Attree, L C Bailey, et al.
Pageof 12