-
1دورية أكاديمية
المؤلفون: Lopes, Luis R., Syrris, Petros, Guttmann, Oliver P., O'Mahony, Constantinos, Tang, Hak Chiaw, Dalageorgou, Chrysoula, Jenkins, Sharon, Hubank, Mike, Monserrat, Lorenzo, McKenna, William J., Plagnol, Vincent, Elliott, Perry M.
المصدر: Heart; Feb2015, Vol. 101 Issue 4, p294-301, 8p, 4 Charts, 3 Graphs
مصطلحات موضوعية: HUMAN phenotype, GENOTYPES, HYPERTROPHIC cardiomyopathy, GENETIC mutation, GENETIC testing, FAMILY history (Medicine), ARRHYTHMIA
-
2دورية أكاديمية
المؤلفون: Behjati, Sam, Maschietto, Mariana, Williams, Richard D., Side, Lucy, Hubank, Mike, West, Rebecca, Pearson, Katie, Sebire, Neil, Tarpey, Patrick, Futreal, Andrew, Brooks, Tony, Stratton, Michael R., Anderson, John
المصدر: PLoS ONE; May2014, Vol. 9 Issue 5, p1-5, 5p
مصطلحات موضوعية: MOSAICISM, P53 protein, GENETIC mutation, GERM cell differentiation, CLINICAL trials, NUCLEOTIDE sequencing, LI-Fraumeni syndrome, BRAIN tumors
-
3دورية أكاديمية
المؤلفون: Antony, Dinu1,2 dinuantony@gmail.com, Nampoory, Narayanan3, Bacchelli, Chiara4, Melhem, Motasem1, Wu, Kaman2, James, Chela T.4, Beales, Philip L.4, Hubank, Mike4, Thomas, Daisy1, Mashankar, Anant5, Behbehani, Kazem3, Schmidts, Miriam2,6, Alsmadi, Osama1 oalsmadi@gmail.com
المصدر: European Journal of Medical Genetics. Dec2017, Vol. 60 Issue 12, p658-666. 9p.
مصطلحات موضوعية: *DYSPLASIA, *EXOMES, *NUCLEOTIDE sequence, *GENETIC mutation, *GENETICS, *DIAGNOSIS, MEDICAL literature reviews