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المؤلفون: Junjie Zheng, Wanlu Ma, Xiaolan Lian, Lian Duan, Min Nie, Jiangfeng Mao, Yuwen Song, Xi Wang, Xueyan Wu, Zhaoxiang Liu
المصدر: Frontiers in Genetics, Vol 11 (2020)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, obesity, lcsh:QH426-470, Kallmann syndrome, Short stature, 03 medical and health sciences, 0302 clinical medicine, Genetics, Medicine, Chondrodysplasia punctata, Strabismus, Genetics (clinical), Exome sequencing, X chromosome, Original Research, X-linked ichthyosis, business.industry, Ichthyosis, X chromosome microdeletion, medicine.disease, strabismus, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be6db02d3c3db902470e7a441678785Test
https://doi.org/10.3389/fgene.2020.00596Test -
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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 -
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المؤلفون: Zhaoxiang Liu, Mingxuan Cui, Min Nie, Xi Wang, Xueyan Wu, Junjie Zheng, Jiangfeng Mao, Shuyu Xiong
المصدر: European journal of medical genetics. 60(6)
مصطلحات موضوعية: Infertility, Adult, Male, endocrine system, medicine.medical_specialty, Heterozygote, Hormone Replacement Therapy, media_common.quotation_subject, 030209 endocrinology & metabolism, Fertility, Biology, medicine.disease_cause, 03 medical and health sciences, Follicle-stimulating hormone, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Testosterone, media_common, Azoospermia, Mutation, 030219 obstetrics & reproductive medicine, Homozygote, General Medicine, Oligospermia, medicine.disease, Endocrinology, Follicle Stimulating Hormone, beta Subunit, Codon, Terminator, Follicle Stimulating Hormone, Spermatogenesis, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3bbe01a2169ce48173cdc0a23e8b326Test
https://pubmed.ncbi.nlm.nih.gov/28392474Test