-
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: Yan Jiang, Yan Zhu, Ou Wang, Wenbo Wang, T T Quan, Xueying Chu, Mei Li, Xiaoping Xing, Min Nie, Yu Xue, Weibo Xia
المصدر: Clinical Endocrinology. 88:285-294
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Short stature, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Asian People, Internal medicine, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, medicine, GNAS complex locus, Humans, Osteodystrophy, Child, education, Albright's hereditary osteodystrophy, Pseudohypoparathyroidism, Receptor, Parathyroid Hormone, Type 1, education.field_of_study, biology, business.industry, Brachydactyly, Infant, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, biology.protein, Female, Age of onset, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b404895c071b6f0815ee3eadeb6b474Test
https://doi.org/10.1111/cen.13516Test -
3
المؤلفون: Olle Kämpe, Saroj Kumar Sahoo, Aditya Narayan Sarangi, Rakesh Aggarwal, Daniel Eriksson, Ghazala Zaidi, Eesh Bhatia, Rajni Srivastava, Sophie Bensing, Niharika Bharti, Amita Aggarwal
المصدر: Clinical endocrinology. 85(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Hypoparathyroidism, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Compound heterozygosity, Premature ovarian insufficiency, Antibodies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Addison Disease, Internal medicine, medicine, Humans, Young adult, Child, Polyendocrinopathies, Autoimmune, biology, business.industry, Interferon-alpha, Middle Aged, Autoimmune regulator, medicine.disease, Titer, 030104 developmental biology, Autoimmune polyendocrine syndrome type 1, Cross-Sectional Studies, Immunology, Mutation, biology.protein, Female, Antibody, business, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9337dbc96c1148a5284b8c21f48128Test
https://pubmed.ncbi.nlm.nih.gov/27219120Test -
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: Xinkai Mo, Jinxiang Han, Ziqiang Wang, Hu Li, Yanzhou Wang, Shifu Wang, Gongchao Li, Fei Zhao, Yanqin Lu, Chao Xu, Tianyou Li, Xiuzhi Ren, Guohua Wu, Fuhui Li
المصدر: Clinical endocrinology. 80(4)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, In silico, Exonic splicing enhancer, Mutation, Missense, Connective tissue, Biology, medicine.disease_cause, Collagen Type I, Endocrinology, Asian People, medicine, Missense mutation, Humans, Child, Gene, Mutation, Osteogenesis Imperfecta, medicine.disease, Phenotype, Collagen Type I, alpha 1 Chain, Radiography, medicine.anatomical_structure, Osteogenesis imperfecta, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce9a612b052d43c5f7f1348c9821e61Test
https://pubmed.ncbi.nlm.nih.gov/24147872Test -
6
المؤلفون: Pia Vahteristo, Grzegorz Zieliński, Jan Lubinski, Robert J. Weil, Ralf Paschke, Salvatore Cannavò, Paolo Pauletto, Auli Karhu, Lauri A. Aaltonen, Markus J. Mäkinen, A. Wasik, Karoliina Tuppurainen, Lorenzo Curtò, Ernesto De Menis, Marianthi Georgitsi
المصدر: Clinical endocrinology. 69(4)
مصطلحات موضوعية: Adenoma, Adult, Male, medicine.medical_specialty, MULTIPLE ENDOCRINE NEOPLASIA, TRANSSPHENOIDAL SURGERY, IN VIVO, CHILDHOOD, DIAGNOSIS, FEATURES, CRITERIA, DISEASE, TYPE 1, TUMORS, Adolescent, Endocrinology, Diabetes and Metabolism, Population, DNA Mutational Analysis, Molecular Sequence Data, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Germline, Loss of heterozygosity, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Germline mutation, Pituitary adenoma, Internal medicine, medicine, Humans, Pituitary Neoplasms, Amino Acid Sequence, Family history, Age of Onset, education, Child, Germ-Line Mutation, Mutation, education.field_of_study, Base Sequence, Intracellular Signaling Peptides and Proteins, medicine.disease, 3. Good health, Pedigree, 030220 oncology & carcinogenesis, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579995569d75ba7369ffa8723048e67dTest
https://pubmed.ncbi.nlm.nih.gov/18410548Test