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

URL الوصول: https://escholarship.org/uc/item/51p2p5z4

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

URL الوصول: https://escholarship.org/uc/item/3952q2qg

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

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

URL الوصول: https://www.jstor.org/stable/3835792

المؤلفون: Salfati, Elias L., Spencer, Emily G., Topol, Sarah E., Muse, Evan D.^{Aff1, Aff2}, Rueda, Manuel, Lucas, Jonathan R., Wagner, Glenn N., Campman, Steven, Topol, Eric J.^{Aff1, Aff2}, Torkamani, Ali^Aff1

المصدر: Genome Medicine. 11(1)

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المؤلفون: Rueda M; The Scripps Translational Science Institute, Scripps Health, The Scripps Research Institute, La Jolla, CA, United States., Wagner JL; The Scripps Translational Science Institute, Scripps Health, The Scripps Research Institute, La Jolla, CA, United States., Phillips TC; The Scripps Translational Science Institute, Scripps Health, The Scripps Research Institute, La Jolla, CA, United States., Topol SE; The Scripps Translational Science Institute, Scripps Health, The Scripps Research Institute, La Jolla, CA, United States., Muse ED; The Scripps Translational Science Institute, Scripps Health, The Scripps Research Institute, La Jolla, CA, United States.; Division of Cardiology, Scripps Clinic, La Jolla, CA, United States., Lucas JR; Medical Examiner Department, San Diego County, San Diego, CA, United States., Wagner GN; Medical Examiner Department, San Diego County, San Diego, CA, United States., Topol EJ; The Scripps Translational Science Institute, Scripps Health, The Scripps Research Institute, La Jolla, CA, United States.; Division of Cardiology, Scripps Clinic, La Jolla, CA, United States., Torkamani A; The Scripps Translational Science Institute, Scripps Health, The Scripps Research Institute, La Jolla, CA, United States.

المصدر: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2018 Jan 24; Vol. 4, pp. 90. Date of Electronic Publication: 2018 Jan 24 (Print Publication: 2017).

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653388 Publication Model: eCollection Cited Medium: Print ISSN: 2297-055X (Print) Linking ISSN: 2297055X NLM ISO Abbreviation: Front Cardiovasc Med Subsets: PubMed not MEDLINE