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Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.
Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al. Weksberg R, et al. Among authors: pueschel sm. Hum Mol Genet. 1993 May;2(5):549-56. doi: 10.1093/hmg/2.5.549. Hum Mol Genet. 1993. PMID: 8518793
Letter: Unconjugated hyperbilirubinemia in galactosemia.
Levy HL, Pueschel SM, Hubbell JP Jr. Levy HL, et al. Among authors: pueschel sm. N Engl J Med. 1975 Apr 24;292(17):923-4. doi: 10.1056/NEJM197504242921716. N Engl J Med. 1975. PMID: 1117919 No abstract available.
Newborn screening compared to clinical identification of biochemical genetic disorders.
Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham CL, Korson M, Msall M, Pueschel S, Seashore M, Shih VE, Levy HL; New England Consortium of Metabolic Programs. Waisbren SE, et al. J Inherit Metab Dis. 2002 Nov;25(7):599-600. doi: 10.1023/a:1022003726224. J Inherit Metab Dis. 2002. PMID: 12638945
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR. Korbel JO, et al. Among authors: pueschel sm. Proc Natl Acad Sci U S A. 2009 Jul 21;106(29):12031-6. doi: 10.1073/pnas.0813248106. Epub 2009 Jul 13. Proc Natl Acad Sci U S A. 2009. PMID: 19597142 Free PMC article.
121 results