-
1دورية أكاديمية
المؤلفون: Bansal, Vikas, Gassenhuber, Johann, Phillips, Tierney, Oliveira, Glenn, Harbaugh, Rebecca, Villarasa, Nikki, Topol, Eric J, Seufferlein, Thomas, Boehm, Bernhard O
المصدر: BMC medicine. 15(1)
مصطلحات موضوعية: Humans, Diabetes Mellitus, Type 2, Prognosis, Case-Control Studies, Cohort Studies, Sequence Analysis, DNA, DNA Mutational Analysis, Phenotype, Mutation, Mutation, Missense, Adult, Female, Male, High-Throughput Nucleotide Sequencing, DNA pooling, High-throughput sequencing, MODY, Monogenic diabetes, Pathogenic variants, Targeted sequencing, Type 2 diabetes, General & Internal Medicine, Medical and Health Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3xq3598fTest
-
2دورية أكاديمية
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