المؤلفون: Jones, Marilyn C, Topol, Sarah E, Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G, Torkamani, Ali

المصدر: Genetics in Medicine. 19(10)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Congenital Structural Anomalies, Brain Disorders, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Congenital, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Aged, Female, Humans, Kidney, LIM-Homeodomain Proteins, Male, Mutation, Nail-Patella Syndrome, Patella, Pedigree, Phenotype, Repressor Proteins, Transcription Factors, Fong disease, HOOD syndrome, nail dysplasia, Nail-Patella syndrome, Turner-Kieser syndrome, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/51p2p5z4Test

المؤلفون: Bloss, Cinnamon S, Zeeland, Ashley A Scott-Van, Topol, Sarah E, Darst, Burcu F, Boeldt, Debra L, Erikson, Galina A, Bethel, Kelly J, Bjork, Robert L, Friedman, Jennifer R, Hwynn, Nelson, Patay, Bradley A, Pockros, Paul J, Scott, Erick R, Simon, Ronald A, Williams, Gary W, Schork, Nicholas J, Topol, Eric J, Torkamani, Ali

المصدر: Genetics in Medicine. 17(12)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Genetic Testing, Human Genome, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Diseases, Inborn, Genome, Human, Genomics, Humans, Infant, Male, Pathology, Molecular, Rare Diseases, Sequence Analysis, DNA, Young Adult, clinical sequencing, genome sequencing, genomics, rare disease, undiagnosed diseases, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3952q2qgTest

المؤلفون: Wang, Lejin, Fan, Chun, Topol, Sarah E., Topol, Eric J., Wang, Qing

المصدر: Science, 2003 Nov . 302(5650), 1578-1581.

الوصول الحر: https://www.jstor.org/stable/3835792Test

المؤلفون: Salfati, Elias L., Spencer, Emily G., Topol, Sarah E., Muse, Evan D., Rueda, Manuel, Lucas, Jonathan R., Wagner, Glenn N., Campman, Steven, Topol, Eric J., Torkamani, Ali

المساهمون: NIH-NCATS Clinical and Translational Science Award, National Center for Data to Health

المصدر: Genome Medicine ; volume 11, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-019-0702-2Test

المؤلفون: Pacheu-Grau, David, Callegari, Sylvie, Emperador, Sonia, Thompson, Kyle, Aich, Abhishek, Topol, Sarah E., Spencer, Emily G., McFarland, Robert, Ruiz-Pesini, Eduardo, Torkamani, Ali, Taylor, Robert W., Montoya, Julo, Rehling, Peter

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166; info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021; http://zaguan.unizar.es/record/79519Test

الإتاحة: https://doi.org/10.1093/hmg/ddy305Test
http://zaguan.unizar.es/record/79519Test

المؤلفون: Rueda, Manuel, Wagner, Jennifer L., Phillips, Tierney C., Topol, Sarah E., Muse, Evan D., Lucas, Jonathan R., Wagner, Glenn N., Topol, Eric J., Torkamani, Ali

المصدر: Frontiers in Cardiovascular Medicine ; volume 4 ; ISSN 2297-055X

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.3389/fcvm.2017.00090Test

المؤلفون: Rueda, Manuel, Wagner, Jennifer L., Phillips, Tierney C., Topol, Sarah E., Muse, Evan D., Lucas, Jonathan R., Wagner, Glenn N., Topol, Eric J., Torkamani, Ali

المساهمون: National Institutes of Health

المصدر: Frontiers in Cardiovascular Medicine ; volume 4 ; ISSN 2297-055X

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.3389/fcvm.2017.00072Test

المؤلفون: Erikson, Galina A., Bodian, Dale L., Rueda, Manuel, Molparia, Bhuvan, Scott, Erick R., Scott-Van Zeeland, Ashley A., Topol, Sarah E., Wineinger, Nathan E., Niederhuber, John E., Topol, Eric J., Torkamani, Ali

المصدر: Cell ; volume 165, issue 4, page 1002-1011 ; ISSN 0092-8674

الإتاحة: https://doi.org/10.1016/j.cell.2016.03.022Test
https://api.elsevier.com/content/article/PII:S0092867416302781?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0092867416302781?httpAccept=text/plainTest

المؤلفون: Chen, Ying‐Zhang, Friedman, Jennifer R., Chen, Dong‐Hui, Chan, Guy C.‐K., Bloss, Cinnamon S., Hisama, Fuki M., Topol, Sarah E., Carson, Andrew R., Pham, Phillip H., Bonkowski, Emily S., Scott, Erick R., Lee, Janel K., Zhang, Guangfa, Oliveira, Glenn, Xu, Jian, Scott‐Van Zeeland, Ashley A., Chen, Qi, Levy, Samuel, Topol, Eric J., Storm, Daniel, Swanson, Phillip D., Bird, Thomas D., Schork, Nicholas J., Raskind, Wendy H., Torkamani, Ali

المصدر: Annals of Neurology ; volume 75, issue 4, page 542-549 ; ISSN 0364-5134 1531-8249

الإتاحة: https://doi.org/10.1002/ana.24119Test

المؤلفون: Wang, Lejin^1,2, Fan, Chun^1,2, Topol, Sarah E.¹, Topol, Eric J.^1,3 topole@ccf.org, Wang, Qing^1,2 wangq2@ccf.org

المصدر: Science. 11/28/2003, Vol. 302 Issue 5650, p1578-1581. 4p. 3 Diagrams, 1 Chart, 1 Graph.

مصطلحات موضوعية: *CORONARY disease, *MYOCARDIAL infarction, *GENETICS, *CARCINOGENESIS, *VASCULAR diseases