-
1دورية أكاديمية
المؤلفون: Miller, David T., Lee, Kristy, Chung, Wendy K., Gordon, Adam S., Herman, Gail E., Klein, Teri E., Stewart, Douglas R., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Gollob, Michael H., Harrison, Steven M., Hershberger, Ray E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Watson, Michael S., Martin, Christa Lese,
Aff19 المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(8):1381-1390
-
2دورية أكاديمية
المؤلفون: Miller, David T., Lee, Kristy, Gordon, Adam S., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Chung, Wendy K., Gollob, Michael H., Harrison, Steven M., Herman, Gail E., Hershberger, Ray E., Klein, Teri E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Stewart, Douglas R., Watson, Michael S., Martin, Christa Lese,
Aff19 المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(8):1391-1398
-
3دورية أكاديمية
المؤلفون: O'Daniel, Julianne M, McLaughlin, Heather M, Amendola, Laura M, Bale, Sherri J, Berg, Jonathan S, Bick, David, Bowling, Kevin M, Chao, Elizabeth C, Chung, Wendy K, Conlin, Laura K, Cooper, Gregory M, Das, Soma, Deignan, Joshua L, Dorschner, Michael O, Evans, James P, Ghazani, Arezou A, Goddard, Katrina A, Gornick, Michele, Farwell Hagman, Kelly D, Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A, Holm, Ingrid A, Jarvik, Gail P, Knight Johnson, Amy, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E, Punj, Sumit, Richards, C Sue, Santani, Avni, Shirts, Brian H, Spinner, Nancy B, Tang, Sha, Weck, Karen E, Wolf, Susan M, Yang, Yaping, Rehm, Heidi L
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 19(5)
مصطلحات موضوعية: Disclosure, Genetic Testing: methods, standards, Humans, Incidental Findings, Information Dissemination, Laboratories: ethics, standards, Practice Guidelines as Topic, Research Report, Sample Size, Sequence Analysis, DNA: methods, standards, Surveys and Questionnaires
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/36w1z6tw
-
4دورية أكاديمية
المؤلفون: Miller, David T., Lee, Kristy, Chung, Wendy K., Gordon, Adam S., Herman, Gail E., Klein, Teri E., Stewart, Douglas R., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Gollob, Michael H., Harrison, Steven M., Hershberger, Ray E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Watson, Michael S., Martin, Christa Lese,
Aff19 المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(8):1582-1584
-
5دورية أكاديمية
المؤلفون: Kimonis, Virginia E, Singh, Kathryn E, Zhong, Rocksheng, Pastakia, Behram, DiGiovanna, John J, Bale, Sherri J
المصدر: Genetics in Medicine. 15(1)
مصطلحات موضوعية: Clinical Research, Pediatric, Dental/Oral and Craniofacial Disease, Rare Diseases, Congenital, Adolescent, Basal Cell Nevus Syndrome, Child, Child, Preschool, Female, Humans, Infant, Male, Phenotype, Radiography, Young Adult, basal cell nevus syndrome, Gorlin syndrome, nevoid basal cell carcinoma syndrome, pediatric diagnostic criteria, Genetics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/14b075cr
-
6دورية أكاديمية
المصدر: Genetics in Medicine. 6(6)
مصطلحات موضوعية: Clinical Research, Neurosciences, Brain Disorders, Biomedical Imaging, Rare Diseases, Adolescent, Adult, Aged, Aged, 80 and over, Basal Cell Nevus Syndrome, Child, Child, Preschool, Extremities, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Middle Aged, Pelvis, Ribs, Skull, Spine, Tomography, X-Ray Computed, Ultrasonography, Gorlin syndrome, nevoid basal cell carcinoma syndrome, PTCH1, radiological features, Genetics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/48b8p8j6
-
7دورية أكاديمية
المؤلفون: Kimonis, Virginia E, Goldstein, Alisa M, Pastakia, Behram, Yang, Michael L, Kase, Ronald, DiGiovanna, John J, Bale, Allen E, Bale, Sherri J
المصدر: Pediatric Research. 39(Suppl 4)
مصطلحات موضوعية: Nevoid Basal Cell Carcinoma Syndrome, basal cell carcinomas, Genetics, Paediatrics, Biomedical and Clinical Sciences, Paediatrics and Reproductive Medicine, Public Health and Health Services, Pediatrics
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1zb2t8s4
-
8دورية أكاديمية
المؤلفون: Kimonis, Virginia, Yang, Jun-Mo, Doyle, Sharon Z, Bale, Sherri J, Compton, John G, DiGiovanna, John J
المصدر: Journal of Investigative Dermatology. 103(6)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, 2.1 Biological and endogenous factors, Aetiology, Adult, Amino Acid Sequence, Base Sequence, Female, Gene Amplification, Genetic Linkage, Humans, Keratins, Keratoderma, Palmoplantar, Keratoderma, Palmoplantar, Diffuse, Lysine, Male, Molecular Sequence Data, Mutation, Pedigree, Oncology and Carcinogenesis, Dermatology & Venereal Diseases, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/62x650ks
-
9
-
10كتاب إلكتروني
المؤلفون: DiGiovanna, John J., Bale, Sherri J., Steinert, Peter M.
المساهمون: Jameson, J. Larry, editorAff1
المصدر: Principles of Molecular Medicine. :707-712
Degree: MD, PhD