Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Torchia, B. S."'
Autor:
Migeon, B. R., Jeppesen, P., Torchia, B. S., Fu, S., Dunn, M. A., Axelman, J., Schmeckpeper, B. J., Fantes, J., Zori, R. T., Driscoll, D. J.
We have previously reported functional disomy for X-linked genes in females with tiny ring X chromosomes and a phenotype significantly more abnormal than Turner syndrome. In such cases the disomy results from failure of these X chromosomes to inactiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3db8f9f00065932e56459dd285cabca7
https://europepmc.org/articles/PMC1914932/
https://europepmc.org/articles/PMC1914932/
The relationship between the transcriptional state of a locus and the time when it replicates during DNA synthesis is increasingly apparent. Active autosomal genes tend to replicate early, whereas inactive ones are more permissive and frequently repl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::19b05f49df9290fb80900d9bde771a49
https://europepmc.org/articles/PMC1918226/
https://europepmc.org/articles/PMC1918226/
Autor:
Rosenfeld, J. A., Tucker, M. E., Escobar, L. F., Neill, N. J., Torchia, B. S., McDaniel, L. D., Schultz, R. A., Chong, K., Chitayat, D.
Publikováno v:
Ultrasound in Obstetrics & Gynecology; Oct2015, Vol. 46 Issue 4, p478-486, 9p
Autor:
Alliman, S., Coppinger, J., Marcadier, J., Thiese, H., Brock, P., Shafer, S., Weaver, C., Asamoah, A., Leppig, K., Dyack, S., Morash, B., Schultz, R., Torchia, B. S., Lamb, A. N., Bejjani, B. A.
Publikováno v:
Clinical Genetics; Aug2010, Vol. 78 Issue 2, p162-168, 7p, 1 Diagram, 1 Chart
Publikováno v:
Prenatal Diagnosis; Aug1998, Vol. 18 Issue 8, p849-853, 5p
Autor:
Rosenfeld, J. A., Tucker, M. E., Escobar, L. F., Neill, N. J., Torchia, B. S., McDaniel, L. D., Schultz, R. A., Chong, K., Chitayat, D.
Publikováno v:
Obstetrical & Gynecological Survey; Jan2016, Vol. 71 Issue 1, p15-16, 2p
Autor:
Theisen A; Signature Genomic Laboratories, Spokane, Wash., Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG
Publikováno v:
Molecular syndromology [Mol Syndromol] 2010; Vol. 1 (5), pp. 262-271. Date of Electronic Publication: 2011 May 18.
Autor:
Liu AY; Department of Molecular Biology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA., Torchia BS, Migeon BR, Siliciano RF
Publikováno v:
Genomics [Genomics] 1997 Jan 15; Vol. 39 (2), pp. 171-84.
Autor:
Migeon BR; Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3914, USA., Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpeper BJ, Fantes J, Zori RT, Driscoll DJ
Publikováno v:
American journal of human genetics [Am J Hum Genet] 1996 Jan; Vol. 58 (1), pp. 161-70.
Autor:
Torchia BS; Center for Medical Genetics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914, USA., Migeon BR
Publikováno v:
Somatic cell and molecular genetics [Somat Cell Mol Genet] 1995 Sep; Vol. 21 (5), pp. 327-33.