Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Jean A. Amos"'
Autor:
Corinne Merkens, Jean A. Amos, Michael Connor, Susan H. Blanton, Bart Janssen, Julian R. Sampson, David Kwiatkowski, Dicky J. J. Halley, Dick Lindhout, J Haines, Paul Fleury, Hope Northrup, Priscilla Short, Moyra Smith, Lodewijk Sandkuyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e4145acac7aef5622133ff8e87256e2
https://doi.org/10.1159/000420432
https://doi.org/10.1159/000420432
Autor:
Daynna J. Wolff, Lawrence M. Silverman, Cecelia S. Hinkel, Patricia Charache, Elisabeth Dequeker, Jeanne C. Beck, Victoria M. Pratt, Elizabeth M. Rohlfs, Lisa V. Kalman, Ann M. Willey, Ira M. Lubin, William Edward Highsmith, Carolyn Sue Richards, David E. Barton, Bin Chen, Emily S. Winn-Deen, Elaine Lyon, Bassem A. Bejjani, Erasmus Schneider, Catherine D. O'Connell, Andrea Ferreira-Gonzalez, D. Joe Boone, Jean A. Amos, Kenneth J. Friedman, Roger V. Lebo, Wayne W. Grody, Daniel H. Farkas, Deborah A. Payne, Benjamin B. Roa, Laurina O. Williams, Michele Caggana, Clark A. Rundell, Dorothy R. Belloni, Maria M. Chan, James C. Willey, Susan H. Bernacki, Carol L. Greene
Publikováno v:
Genetics in Medicine. 7:534-549
Purpose: To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations for practical, sustainable mechanisms to make quality control (QC) materials availa
Publikováno v:
Clinical Genetics. 61:13-20
To provide the clinical diagnostics community with accurate protocols and measurements for the detection of genetic disorders, we have established a quantitative measurement program for trinucleotide repeats associated with human disease. In this stu
Autor:
Robert D. Oates, Susan M Sawyer, John E. Mickle, Andrew A. Colin, Aubrey Milunsky, Jean A. Amos
Publikováno v:
Chest. 110:440-445
Congenital bilateral absence of the vas deferens (CBAVD) was once thought to be a distinct clinical entity, but genetic similarities in men with cystic fibrosis (CF) and CBAVD are described increasingly. We evaluated the clinical status, growth and n
Autor:
Jean-Claude Amos
Il y a trente ans, les eaux de l’archipel indonésien étaient labourées de grands voiliers de haute mer évoquant tantôt la grande époque du trafic des épices, tantôt les bateaux de pierre du Borobudur. Il n’en reste plus un seul. Mais les
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9099fa021a4aa88cddb776342e1694b6
http://tc.revues.org/283
http://tc.revues.org/283
Autor:
Jean-Claude Amos
Au cours de ses trois tours du monde, entre 1826 et 1840, l’enseigne, puis lieutenant de vaisseau Francois-Edmond Pâris a dessine plusieurs centaines d’embarcations exotiques. Il faut replacer dans son contexte la demarche du jeune officier, iss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a14c15d049e021cdefafb90da8c251
http://tc.revues.org/316
http://tc.revues.org/316
Autor:
C. Davis, J. Mickle, Ronald G. Crystal, David R. Witt, A. E. Shrimpton, Milan Macek, Garry R. Cutting, A. Shuber, Lap-Chee Tsui, Chin-Shyan Chu, C. Graham, W. E. Highsmith, S. M. Cashman, Jean A. Amos, Sheila Curristin, S. Kiesewetter
Publikováno v:
Nature Genetics. 5:274-278
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and disease presentation (phenotype) is not straightforward. We have been investigating whether vari
Autor:
Rajyasree, Emmadi, Jerry B, Boonyaratanakornkit, Rangaraj, Selvarangan, Venkatakrishna, Shyamala, Barbara L, Zimmer, Laurina, Williams, Bonita, Bryant, Ted, Schutzbank, Michele M, Schoonmaker, Jean A, Amos Wilson, Leslie, Hall, Preeti, Pancholi, Kathryn, Bernard
Publikováno v:
The Journal of molecular diagnostics : JMD. 13(6)
The superior sensitivity and specificity associated with the use of molecular assays has greatly improved the field of infectious disease diagnostics by providing clinicians with results that are both accurate and rapidly obtained. Herein, we review
Autor:
Jean A. Amos
Publikováno v:
Molecular Pathology in Clinical Practice: Genetics ISBN: 9780387873732
Molecular Pathology in Clinical Practice ISBN: 9780387332260
Molecular Pathology in Clinical Practice ISBN: 9780387332260
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be82b07bc28733ab082eea4f3014a8e
https://doi.org/10.1007/978-0-387-87374-9_10
https://doi.org/10.1007/978-0-387-87374-9_10
Autor:
John R.W. Yates, A. E. Fryer, John P. Osborne, L. A. J. Janssen, M. W. Burley, R. S. Kandt, J. Attwood, Margaret A. Pericak-Vance, R. Fahsold, P. M. Conneally, Pamela Flodman, J. A. Trofatter, Marcy C. Speer, Jean A. Amos, M. P. Short, Sue Povey, J. M. Connor, Hope Northrup, Jonathan L. Haines, N. T. Bech-Hansen, D. J. J. Halley, Julian R. Sampson, Ann F. Jewell, Moyra Smith
Publikováno v:
Annals of the New York Academy of Sciences. 615:256-264
Tuberous sclerosis (TSC) is a multisystem autosomal dominant hamartosis whose genetics is complicated by reduced penetrance and widely varying clinical expression. Results of linkage analyses have variously suggested two different locations for a TSC