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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: Junjie Zheng, Bingqing Yu, Min Nie, Zhaoxiang Liu, Qibin Huang, Shuyu Xiong, Xi Wang, Mingxuan Cui, Xueyan Wu, Bingkun Huang, Jiangfeng Mao, Wanlu Ma, Hongli Xu
المصدر: Steroids. 126
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, 17-Hydroxysteroid Dehydrogenases, Sequence analysis, Clinical Biochemistry, 030209 endocrinology & metabolism, Biology, Compound heterozygosity, Biochemistry, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Asian People, medicine, Humans, Disorders of sex development, Child, Molecular Biology, Gene, Genetic testing, Pharmacology, Genetics, Disorder of Sex Development, 46,XY, medicine.diagnostic_test, Organic Chemistry, Homozygote, medicine.disease, Phenotype, Molecular biology, 030104 developmental biology, Child, Preschool, Mutation (genetic algorithm), Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::355be79a62a74a7f1e22ec0e32661564Test
https://pubmed.ncbi.nlm.nih.gov/28774765Test