-
1
المؤلفون: Jonathan Berg, Mike Lonergan, Pavithran Maniam, Paul J. Newey, David Goudie, Kaixin Zhou
المصدر: Journal of the Endocrine Society. 2:806-816
مصطلحات موضوعية: 0301 basic medicine, Genetics, education.field_of_study, medicine.diagnostic_test, Endocrinology, Diabetes and Metabolism, Population, SDHA, Biology, medicine.disease, Penetrance, 03 medical and health sciences, 030104 developmental biology, Paraganglioma, medicine, Missense mutation, Allele, education, Allele frequency, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2109bdd17b9695be1d8af45d5991a4d9Test
https://doi.org/10.1210/js.2018-00120Test -
2
المؤلفون: Pavithran, Maniam, Kaixin, Zhou, Mike, Lonergan, Jonathan N, Berg, David R, Goudie, Paul J, Newey
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: GnomAD, paraganglioma, Brief Reports, Adrenal, mutation, penetrance, SDHA, pheochromocytoma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::291b8487d5bc2f69bbf1bea0ff6a05c9Test
https://pubmed.ncbi.nlm.nih.gov/29978154Test -
3
المؤلفون: Rajesh V. Thakker, Paul J. Newey, Jonathan Berg, Kaixin Zhou, Colin N. A. Palmer
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Parathyroid, Bone, and Mineral Metabolism, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Context (language use), Disease, Biology, germline, ExAC, genetic testing, 03 medical and health sciences, 0302 clinical medicine, medicine, single nucleotide variant, penetrance, education, Exome, Clinical Research Articles, Genetic testing, Genetics, education.field_of_study, Endocrine disease, medicine.diagnostic_test, medicine.disease, Penetrance, 3. Good health, 030104 developmental biology, mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e41e8fa2e8c5f832ee310742f28b38eTest
https://pubmed.ncbi.nlm.nih.gov/29308445Test