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1دورية أكاديميةTry235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient
المؤلفون: Mesut Parlak, Erdem Durmaz, Semin Gursoy, Iffet Bircan, Sema Akcurin
المصدر: Annals of Saudi Medicine, Vol 34, Iss 3, Pp 254-256 (2014)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Korcan Demir, Walaa E Kattan, Minjing Zou, Erdem Durmaz, Huda BinEssa, Özlem Nalbantoğlu, Roua A Al-Rijjal, Brian Meyer, Behzat Özkan, Yufei Shi
المصدر: PLoS ONE, Vol 10, Iss 7, p e0131376 (2015)
وصف الملف: electronic resource
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المؤلفون: Korcan Demir, Anwar F Al-Enezi, Minjing Zou, Huda A BinEssa, Yufei Shi, Erdem Durmaz, Brian F. Meyer, Roua A. Al-Rijjal, Sezer Acar, Ali S. Alzahrani, Gönül Çatlı
المصدر: Endocrine Practice. 26:72-81
مصطلحات موضوعية: Mutation, Splice site mutation, business.industry, Endocrinology, Diabetes and Metabolism, Rickets, General Medicine, medicine.disease_cause, medicine.disease, Molecular biology, Calcitriol receptor, Open reading frame, Exon, Endocrinology, Medicine, splice, business, Gene
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4
المؤلفون: E Ozmert, Erdem Durmaz, Orhan Derman, Pinar Erkekoglu, Murat Kızılgün, Kadriye Yurdakök, Belma Kocer-Gumusel
المصدر: Journal of Trace Elements in Medicine and Biology. 44:274-278
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, chemistry.chemical_element, Zinc, Significant negative correlation, Biochemistry, Body Mass Index, Inorganic Chemistry, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Humans, Breast, skin and connective tissue diseases, Plasma zinc, Testosterone, Manganese, 030109 nutrition & dietetics, Chemistry, Puberty, Organ Size, medicine.disease, Lipids, Hormones, Trace Elements, Endocrinology, Gynecomastia, Zinc deficiency, Molecular Medicine, Body mass index, Copper, Hormone
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المؤلفون: Ihsan Turan, Ayca Ulubay, Erdem Durmaz, Bilgin Yüksel, Leman Damla Kotan, Tamer Tetiker, A. Kemal Topaloglu, Gamze Akkus, Eda Mengen, Fatih Gurbuz
المساهمون: Çukurova Üniversitesi
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, Genotype, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Endokrinoloji ve Metabolizma, medicine.disease_cause, Hypogonadotropic hypogonadism, Young Adult, 03 medical and health sciences, Klinefelter Syndrome, 0302 clinical medicine, Endocrinology, Humans, Medicine, Genetic Predisposition to Disease, Receptor, Fibroblast Growth Factor, Type 1, Family Health, Puberty, Delayed, Genetics, Mutation, 030219 obstetrics & reproductive medicine, business.industry, Hypogonadism, Fibroblast growth factor receptor 1, reduced penetrance, medicine.disease, Phenotype, Pedigree, body regions, stomatognathic diseases, 030104 developmental biology, Pediatri, Pediatrics, Perinatology and Child Health, Original Article, Female, Klinefelter syndrome, business, FGFR1 mutations
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6
المؤلفون: Woo-Young Kim, Doga Turkkahraman, Erdem Durmaz, Jae-Gook Shin, Sema Akçurin, Su-Jun Lee
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, ovarian development, medicine.drug_class, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clitoromegaly, medicine.disease_cause, Bioinformatics, Frameshift mutation, 03 medical and health sciences, Aromatase, Endocrinology, Internal medicine, medicine, Humans, Mutation, biology, CYP19A1 gene, business.industry, Ovary, Infant, Newborn, medicine.disease, Androgen, Null allele, 030104 developmental biology, Estrogen, Pediatrics, Perinatology and Child Health, biology.protein, Female, Original Article, medicine.symptom, Aromatase deficiency, business
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7
المؤلفون: Ali Asci, Iffet Bircan, Belmar Kocer-Gumusel, Pinar Erkekoglu, Aylin Balci, Erdem Durmaz
المصدر: Humanexperimental toxicology. 37(10)
مصطلحات موضوعية: 0301 basic medicine, endocrine system, Bisphenol A, Turkey, Turkish, Health, Toxicology and Mutagenesis, Urinary system, Physiology, Puberty, Precocious, Thyrotropin, 010501 environmental sciences, Endocrine Disruptors, Toxicology, 01 natural sciences, 03 medical and health sciences, chemistry.chemical_compound, Phenols, Limit of Detection, Premature thelarche, Medicine, Endocrine system, Humans, Breast, Benzhydryl Compounds, Child, Chromatography, High Pressure Liquid, 0105 earth and related environmental sciences, Breast development, Estradiol, urogenital system, business.industry, General Medicine, Luteinizing Hormone, language.human_language, 030104 developmental biology, chemistry, Case-Control Studies, Child, Preschool, Creatinine, language, Female, business, hormones, hormone substitutes, and hormone antagonists
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41c518f051fae15d2ab6f1699d9fd0be
https://pubmed.ncbi.nlm.nih.gov/29405766 -
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المؤلفون: Pinar Erkekoglu, Erdem Durmaz, Sema Akçurin, Iffet Bircan, Ali Asci, Belma Kocer-Gumusel
المصدر: Environmental toxicology and pharmacology. 59
مصطلحات موضوعية: medicine.medical_specialty, Health, Toxicology and Mutagenesis, Urinary system, Phthalic Acids, Puberty, Precocious, Phthalate metabolite, Newly diagnosed, 010501 environmental sciences, Endocrine Disruptors, Toxicology, 01 natural sciences, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Urinary levels, Internal medicine, Premature thelarche, medicine, Humans, Child, 0105 earth and related environmental sciences, Pharmacology, Creatinine, 030219 obstetrics & reproductive medicine, Estradiol, business.industry, Phthalate, General Medicine, Luteinizing Hormone, Mono-(2-ethylhexyl)phthalate, Endocrinology, chemistry, Child, Preschool, Female, Follicle Stimulating Hormone, business
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9
المؤلفون: Brian K. Meyer, Erdem Durmaz, Yufei Shi, Sema Akçurin, Essa Y. Baitei, Minjing Zou, Iffet Bircan, Roua A. Al-Rijjal, Sumaya Hammami
المصدر: Bone. 52:286-291
مصطلحات موضوعية: Adult, Male, Histology, Adolescent, Turkey, Physiology, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Rickets, Biology, medicine.disease_cause, Polymerase Chain Reaction, Young Adult, Exon, Monoallelic Mutation, medicine, Animals, Humans, Amino Acid Sequence, Child, X chromosome, Genetics, Mutation, Sequence Homology, Amino Acid, PHEX, Mutagenesis, Genetic Diseases, X-Linked, medicine.disease, PHEX Phosphate Regulating Neutral Endopeptidase, Introns, Hypophosphatemic Rickets, Child, Preschool, Female, Familial Hypophosphatemic Rickets
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10
المؤلفون: Erdem Durmaz, Yufei Shi, Roua A. Al-Rijjal, Brian K. Meyer, Minjing Zou, Sema Akçurin, Iffet Bircan
المصدر: Clinical Endocrinology. 77:363-369
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Turkey, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Rickets, Biology, Compound heterozygosity, medicine.disease_cause, Young Adult, Exon, Endocrinology, Internal medicine, Gene duplication, medicine, Humans, Hypocalcaemia, Child, Genetic Association Studies, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, Genetics, Mutation, Base Sequence, Infant, Exons, Middle Aged, medicine.disease, Introns, Familial Hypophosphatemic Rickets, Mutagenesis, Insertional, Child, Preschool, Female, RNA Splice Sites, Metabolism, Inborn Errors