-
1
المؤلفون: Zhaoxiang Liu, Wanlu Ma, Yinjie Gao, Ming Hao, Jiangfeng Mao, Min Nie, Qibin Huang, Bingqing Yu, Xi Wang, Xueyan Wu, Rui Zhang
المصدر: Clinical Endocrinology. 89:613-620
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, endocrine system, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Clitoromegaly, Gene mutation, Steroidogenic Factor 1, Bioinformatics, Young Adult, 03 medical and health sciences, symbols.namesake, Endocrinology, Asian People, Internal medicine, medicine, Humans, Missense mutation, Disorders of sex development, Child, Gene, Retrospective Studies, Sanger sequencing, Disorder of Sex Development, 46,XY, business.industry, High-Throughput Nucleotide Sequencing, medicine.disease, 030104 developmental biology, Hypospadias, Mutation, Cohort, symbols, Female, medicine.symptom, business, Plasmids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb8cfa2711d1bc185596ce26d6447981Test
https://doi.org/10.1111/cen.13831Test -
2
المؤلفون: Gerlof D. Valk, Bernard A. Zonnenberg, H. P. F. Koppeschaar, I. H. M. Borel Rinkes, Carolina R. C. Pieterman, R. B. van der Luijt, M. R. Vriens, Jennifer M.J. Schreinemakers
المصدر: Clinical Endocrinology. 70:575-581
مصطلحات موضوعية: Adenoma, Adult, Male, endocrine system, medicine.medical_specialty, Adolescent, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Adrenal Gland Neoplasms, Malignancy, Cohort Studies, Young Adult, Endocrinology, Internal medicine, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Adrenal adenoma, MEN1, Genetic Testing, Child, Multiple endocrine neoplasia, Aged, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Hyperparathyroidism, Retrospective cohort study, Middle Aged, Prognosis, medicine.disease, Pancreatic Neoplasms, Neuroendocrine Tumors, Medical genetics, Female, business, Follow-Up Studies, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a80190178805ab9298e2bc78dade2ba8Test
https://doi.org/10.1111/j.1365-2265.2008.03324.xTest -
3
المؤلفون: Ferruccio Santini, Patrizia Agretti, Luca Chiovato, Anna Perri, Paolo Vitti, Giuseppina De Marco, E. Ferrarini, Lucia Montanelli, Aldo Pinchera, Caterina Di Cosmo, Arash Ordookhani, Maria Elena Banco, Massimo Tonacchera
المصدر: Clinical Endocrinology. 67:34-40
مصطلحات موضوعية: Adult, Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, DNA Mutational Analysis, Thyroid Transcription Factor 1, Thyroid Gland, Thyroid Function Tests, Biology, Transfection, Thyroglobulin, Thyroid function tests, Cell Line, PAX8 Transcription Factor, Endocrinology, Hypothyroidism, Internal medicine, Congenital Hypothyroidism, medicine, Humans, Paired Box Transcription Factors, Euthyroid, Child, Luciferases, Promoter Regions, Genetic, medicine.diagnostic_test, Thyroid, Infant, Newborn, medicine.disease, Congenital hypothyroidism, DNA-Binding Proteins, Enzyme Activation, medicine.anatomical_structure, Mutagenesis, Site-Directed, Female, PAX8, HeLa Cells, Transcription Factors, Endocrine gland
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad6c92ea19f434b02502629e774e039Test
https://doi.org/10.1111/j.1365-2265.2007.02831.xTest -
4
المؤلفون: Tomonobu Hasegawa, Satoshi Narumi, Tsutomu Ogata, Ayuko S. Suwanai, Atsuyuki Yamataka, Hidenori Haruna, Tomohiro Ishii, Ryuji Fukuzawa
المصدر: Clinical endocrinology. 78(6)
مصطلحات موضوعية: Steroidogenic factor 1, Adult, endocrine system, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Disorders of Sex Development, Primary Ovarian Insufficiency, medicine.disease_cause, Premature ovarian insufficiency, Steroidogenic Factor 1, Endocrinology, Internal medicine, medicine, Adrenal insufficiency, Humans, Disorders of sex development, Psychiatry, Child, Depression (differential diagnoses), Aged, Gonadal Dysgenesis, 46,XY, Mutation, Depressive Disorder, business.industry, Middle Aged, medicine.disease, Phenotype, Anxiety Disorders, Gonadal Dysgenesis, 46,XX, Pedigree, Anxiety, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd37880f5ef632c5500a2d3fceecde96Test
https://pubmed.ncbi.nlm.nih.gov/23095176Test -
5
المؤلفون: Wolfram Karges, Andreas Machens, Detlef K. Bartsch, Ulrich Schneyer, Karin Frank-Raue, Matthias Rothmund, Ludwig Schaaf, Peter E. Goretzki, Friedhelm Raue, Henning Dralle
المصدر: Clinical endocrinology. 67(4)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Aging, Heterozygote, endocrine system diseases, Tumor suppressor gene, Adolescent, Endocrinology, Diabetes and Metabolism, Penetrance, Biology, Malignant transformation, Endocrinology, Germline mutation, Internal medicine, medicine, Multiple Endocrine Neoplasia Type 1, Endocrine system, Humans, MEN1, Multiple endocrine neoplasia, Child, Germ-Line Mutation, Aged, Analysis of Variance, Middle Aged, medicine.disease, Female, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1fb86f0d075ae31a521b16199f5339eTest
https://pubmed.ncbi.nlm.nih.gov/17590169Test -
6
المؤلفون: Bijay Vaidya, C M Brewer, Andrew T. Hattersley, Sian Ellard
المصدر: Clinical endocrinology. 62(2)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, Pathology, endocrine system diseases, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Gene mutation, Biology, Statistics, Nonparametric, Endocrinology, Pituitary adenoma, Predictive Value of Tests, Internal medicine, Proto-Oncogene Proteins, medicine, Multiple Endocrine Neoplasia Type 1, Humans, MEN1, Genetic Testing, Family history, Multiple endocrine neoplasia, Child, Referral and Consultation, Aged, Aged, 80 and over, Patient Selection, Exons, Middle Aged, medicine.disease, Phenotype, Mutation (genetic algorithm), Mutation testing, MEN1 Gene Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b8997c16f5ff29a02fab16c3f59d86Test
https://pubmed.ncbi.nlm.nih.gov/15670192Test