Welcome to the Genomic Era von Guttmacher, Alan E, Collins, Francis S

Volltext

A vision for the future of genomics research von COLLINS, Francis S, GREEN, Eric D, GUTTMACHER, Alan E, GUYER, Mark S

Volltext

Genomic Medicine — A Primer von Guttmacher, Alan E, Collins, Francis S

Volltext

The Family History — More Important Than Ever von Guttmacher, Alan E, Collins, Francis S, Carmona, Richard H

Volltext

Realizing the Promise of Genomics in Biomedical Research von Guttmacher, Alan E, Collins, Francis S

Volltext

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 von Johnson, D.W., Berg, J.N., Baldwin, M.A., Gallione, C.J., Marondel, I., Yoon, S.-J., Stenzel, T.T., Speer, M., Pericak-Vance, M.A., Diamond, A., Guttmacher, A.E., Jackson, C.E., Attisano, L., Kucherlapati, R., Porteous, M.E.M., Marchuk, D.A.

Volltext

Genetics Moves Into the Medical Mainstream von Collins, Francis S, Guttmacher, Alan E

Volltext

Endoglin Expression Is Reduced in Normal Vessels but Still Detectable in Arteriovenous Malformations of Patients with Hereditary Hemorrhagic Telangiectasia Type 1 von Bourdeau, Annie, Cymerman, Urszula, Paquet, Marie-Eve, Meschino, Wendy, McKinnon, Wendy C., Guttmacher, Alan E., Becker, Laurence, Letarte, Michelle

Volltext

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome von MUENKE, M, GRIPP, K. W, LOSKEN, H. W, MULLIKEN, J. B, GUTTMACHER, A. E, WILROY, R. S, CLARKE, L. A, HOLLWAY, G, ADES, L. C, HAAN, E. A, MULLEY, J. C, COHEN, M. M, MCDONALD-MCGINN, D. M, BELLUS, G. A, FRANCOMANO, C. A, MOLONEY, D. M, WALL, S. A, WILKIE, A. O. M, ZACKAI, E. H, GAUDENZ, K, WHITAKER, L. A, BARTLETT, S. P, MARKOWITZ, R. I, ROBIN, N. H, NWOKORO, N, MULVIHILL, J. J

Volltext

Reported cardiac phenotypes in hereditary hemorrhagic telangiectasia emphasize burdens from arrhythmias, anemia and its treatments, but suggest reduced rates of myocardial infarcti... von Shovlin, CL, Awan, I, Cahilog, Z, Abdulla, FN, Guttmacher, AE

Volltext

Recommendations of core competencies in genetics essential for all health professionals von Jenkins, Jean, Blitzer, Miriam, Boehm, Karina, Feetham, Suzanne, Gettig, Elizabeth, Johnson, Ann, Lapham, E Virginia, Patenaude, Andrea Farkas, Reynolds, P Preston, Guttmacher, Alan E

Volltext

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? von Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E

Volltext

HUMAN GENETICS ON THE WEB von Guttmacher, Alan E

Volltext

Twenty Lessons From the Heart of Medicine von Guttmacher, Alan E

Volltext

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations von ROSENBERG, M. J, KILLORAN, C, GRAHAM, J. M, GRIX, A, GUTTMACHER, A. E, HUDGINS, L, KOZMA, C, MICHAELIS, R. C, PAULI, R, PETERS, K. F, ROSENBAUM, K. N, TIFFT, C. J, DZIADZIO, L, WARGOWSKI, D, WILLIAMS, M. S, BIESECKER, L. G, CHANG, S, STONE, D. L, MECK, J, AUGHTON, D, BIRD, L. M, BODURTHA, J, CASSIDY, S. B

Volltext

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles von Gallione, Carol J., Klaus, Daniel J., Yeh, Eric Y., Stenzel, Timothy T., Xue, Yan, Anthony, Kara B., McAllister, Kimberly A., Baldwin, Melanie A., Berg, Jonathan N., Lux, Andreas, Smith, Joshua D., Vary, Calvin P. H., Craigen, William J., Westermann, CJJ, Warner, Mary L., Miller, York E., Jackson, C. Eugene, Guttmacher, Alan E., Marchuk, Douglas A.

Volltext

Psychologists' Contributions to the Genetic Revolution von Patenaude, Andrea Farkas, Guttmacher, Alan E, Collins, Francis S

Volltext

Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus von Howard, Timothy D., Guttmacher, Alan E., McKinnon, Wendy, Sharma, Mridula, McKusick, Victor A., Jabs, Ethylin Wang

Volltext

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) von Shovlin, Claire L., Guttmacher, Alan E., Buscarini, Elisabetta, Faughnan, Marie E., Hyland, Robert H., Westermann, Cornelius J.J., Kjeldsen, Anette D., Plauchu, Henri

Volltext

Genetics Resources on the Web (GROW) von Guttmacher, Alan E., Collins, Francis S.

Volltext