Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Orten, D. J."'
Autor:
Orten, D. J., Weston, M. D., Kelley, P. M., Cremers, C. W., Wagenaar, M., Samuel Jacobson, Kimberling, W. J.
Publikováno v:
Human Mutation, 15, 114-115
Human Mutation, 15, 1, pp. 114-115
Scopus-Elsevier
Human Mutation, 15, 1, pp. 114-115
Scopus-Elsevier
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::57d2e870dd586cebfdc3e26d7fb37da9
http://hdl.handle.net/2066/144742
http://hdl.handle.net/2066/144742
Autor:
Western, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z. -Y, Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Möller, C., Samuel Jacobson, Gorin, M. B., Kimberling, W. J.
Publikováno v:
Scopus-Elsevier
Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ccd75f41c6ab940575e3ff7e1b343944
https://europepmc.org/articles/PMC1914835/
https://europepmc.org/articles/PMC1914835/
Publikováno v:
Archives of Virology; March 1992, Vol. 122 Issue: 1-2 p163-173, 11p
Publikováno v:
Molecular and Cellular Biology; June 1994, Vol. 14 Issue: 6 p4233-4243, 11p
Autor:
Astuto LM; Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital, Omaha, NE 68131, USA., Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2002 Aug; Vol. 71 (2), pp. 262-75. Date of Electronic Publication: 2002 Jun 19.
Autor:
Hmani-Aifa M, Ben Arab S, Kharrat K, Orten DJ, Boulila-Elgaied A, Drira M, Hachicha S, Kimberling WJ, Ayadi H
Publikováno v:
Journal of medical genetics [J Med Genet] 2002 Apr; Vol. 39 (4), pp. 281-3.
Autor:
Orten DJ; Center for Hereditary Communication Disorders, Boys Town National Research Hospital Omaha, NE, USA. ortend@boystown.org, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ
Publikováno v:
Human mutation [Hum Mutat] 2000 Jan; Vol. 15 (1), pp. 114-5.
Autor:
Orten DJ; Center for Hereditary Communication Disorders, Boys Town National Research Hospital Omaha, NE 68131, USA. ortend@boystown.org, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ
Publikováno v:
Human mutation [Hum Mutat] 1999 Oct; Vol. 14 (4), pp. 354.
Autor:
Kelley PM; Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA., Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ
Publikováno v:
Genomics [Genomics] 1997 Feb 15; Vol. 40 (1), pp. 73-9.
Autor:
Weston MD; Department of Genetics, Boys Town National Research Hospital, University of Nebraska Medical Center, Omaha, USA., Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ
Publikováno v:
American journal of human genetics [Am J Hum Genet] 1996 Nov; Vol. 59 (5), pp. 1074-83.