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1Academic Journal
المؤلفون: Cengiz Kara, Jamala Mammadova, Ümmet Abur, Cagri Gumuskaptan, Elif İzci Güllü, Ayhan Dağdemir, Murat Aydın
المصدر: European Thyroid Journal, Vol 12, Iss 3, Pp 1-11 (2023)
مصطلحات موضوعية: congenital hypothyroidism, genetic testing, persistent hyperthyrotropinemia, thyroid hypoplasia, tsh resistance, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Kara, Cengiz, Mammadova, Jamala, Abur, Ummet, Gümüşkaptan, Çağrı, Güllü, Elif İzci, Dağdemir, Ayhan, Aydın, Murat
المساهمون: Mammadova, Jamala
مصطلحات موضوعية: Congenital Hypothyroidism, Genetic Testing, Persistent Hyperthyrotropinemia, Thyroid Hypoplasia, TSH Resistance
وصف الملف: application/pdf
Relation: European Thyroid Journal; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Kara, C., Mammadova, J., Abur, Ü., Gumuskaptan, C., Güllü, E. İ., Dağdemir, A., & Aydın, M. (2023). Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism. European Thyroid Journal, 12(3).; https://hdl.handle.net/20.500.12939/4058; 12
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3Academic Journal
المؤلفون: Silvia Ricci, Walter Maria Sarli, Lorenzo Lodi, Clementina Canessa, Francesca Lippi, Chiara Azzari, Stefano Stagi
المصدر: Genes; Volume 13; Issue 9; Pages: 1552
مصطلحات موضوعية: 22q11.2 deletion syndrome, Di George syndrome, hypothyroidism, hyperthyroidism, microdeletion, pediatric, thyroid disease, autoimmune thyroid disease, thyroid sonography, thyroid hypoplasia
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13091552
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4Academic Journal
المؤلفون: Nikolina Zdraveska, Mirjana Kocova, Adeline K. Nicholas, Violeta Anastasovska, Nadia Schoenmakers
المصدر: Frontiers in Endocrinology, Vol 11 (2020)
مصطلحات موضوعية: congenital hypothyroidism, dyshormonogenesis, goiter, thyroid hypoplasia, iodine, genes, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Zdraveska, Nikolina, Kocova, Mirjana, Nicholas, Adeline K., Anastasovska, Violeta, Schoenmakers, Nadia
مصطلحات موضوعية: Endocrinology, congenital hypothyroidism, dyshormonogenesis, goiter, thyroid hypoplasia, iodine, genes, screening
وصف الملف: application/zip; text/xml; application/pdf
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6Academic Journal
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7
المؤلفون: Nadia Schoenmakers, Nikolina Zdraveska, Violeta Anastasovska, Mirjana Kocova, Adeline K Nicholas
المساهمون: Schoenmakers, Nadia [0000-0002-0847-2884], Apollo - University of Cambridge Repository
المصدر: Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 11 (2020)مصطلحات موضوعية: 0301 basic medicine, endocrine system, Goiter, dyshormonogenesis, endocrine system diseases, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Thyroid dysgenesis, 03 medical and health sciences, symbols.namesake, PAX8 Transcription Factor, 0302 clinical medicine, Endocrinology, medicine, Humans, Mutation frequency, Child, genes, Original Research, Genetics, Sanger sequencing, Mutation, goiter, lcsh:RC648-665, iodine, screening, Thyroid, Infant, Newborn, thyroid hypoplasia, High-Throughput Nucleotide Sequencing, Infant, congenital hypothyroidism, Receptors, Thyrotropin, medicine.disease, Republic of North Macedonia, 3. Good health, Congenital hypothyroidism, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Child, Preschool, Thyroid Dysgenesis, symbols, PAX8
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/jpeg
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8Academic Journal
المؤلفون: T. Davydova V., E. Kravets B., Т. Давыдова В., Е. Кравец Б.
المصدر: Bulletin of Siberian Medicine; Том 7, № 1 (2008); 95-98 ; Бюллетень сибирской медицины; Том 7, № 1 (2008); 95-98 ; 1819-3684 ; 1682-0363 ; 10.20538/1682-0363-2008-7-1
مصطلحات موضوعية: thyroid gland, neonates, ultrasound diagnosis, neonatal goiter, thyroid hypoplasia, щитовидная железа, новорожденные, УЗИ, неонатальный зоб, гипоплазия щитовидной железы, 611.441:616.441-053.31(571.16)
وصف الملف: application/pdf
Relation: https://bulletin.tomsk.ru/jour/article/view/3403/2183; Олейник О.К. Состояние здоровья детей, перенесших транзисторный гипотиреоз в периоде новорожденности: Автореф. дис. … канд. мед. наук. Томск, 2001. 24 с.; Шилин Д.Е., Логачева Т.С., Попов М.А. Современные подходы к оценке размеров щитовидной железы у новорожденных и детей раннего возраста по данным ультразвукового исследования // Вестн. рентгенологии и радиологии. 2004. № 1. С. 23- 25.; Шилин Д.Е., Пыков М.И. Ультразвуковое исследование щитовидной железы // Клиническое руководство по ультразвуковой диагностике в педиатрии / Под ред. М.И. Пыкова, К.В. Ватолина. М., 2001. С. 551-591.; https://bulletin.tomsk.ru/jour/article/view/3403
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9
المؤلفون: S.I. Turchina, D.A. Kashkalda, T.A. Nachetova
المصدر: Sovremennaâ Pediatriâ, Iss 4(76), Pp 113-116 (2016)
مصطلحات موضوعية: endocrine system, Goiter, thyroid gland, endocrine system diseases, medicine.diagnostic_test, business.industry, girls, Thyroid, lcsh:RJ1-570, Physiology, lcsh:Pediatrics, Secondary amenorrhea, medicine.disease, Palpation, Autoimmune thyroiditis, thyroid status, secondary amenorrhea, medicine.anatomical_structure, Thyroid dysfunction, medicine, Thyroid Hypoplasia, business, Nontoxic goiter
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10
المؤلفون: Mongia Hachicha, Mouna Mnif, Athanasia Stoupa, Patrick Nitschké, Neila Belguith, Manelle Gueriouz, Michel Polak, Leila Keskes, Catherine Raynaud-Ravni, Aurore Carré, Rim Chaabane, Christine Bole-Feysot
المصدر: Thyroid : official journal of the American Thyroid Association. 28(7)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Adolescent, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Thyroid Function Tests, Thyroid dysgenesis, Iodide Peroxidase, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Gene Frequency, Thyroid peroxidase, Internal medicine, Exome Sequencing, medicine, Congenital Hypothyroidism, Humans, Primary congenital hypothyroidism, Child, Exome sequencing, Alleles, biology, business.industry, Thyroid, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, medicine.anatomical_structure, Mutation, Thyroid Dysgenesis, biology.protein, Thyroid Hypoplasia, Female, business, Hormone
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11
المؤلفون: T V Kolkova, A V Zinovik, N B Gusina
المصدر: Клиническая и экспериментальная тиреоидология, Vol 6, Iss 2, Pp 40-45 (2010)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, endocrine system, endocrine system diseases, Population, chemistry.chemical_element, Iodine, Diseases of the endocrine glands. Clinical endocrinology, Thyroid-stimulating hormone, primary congenital hypothyroidism (ch), medicine, neonatal screening, Primary congenital hypothyroidism, education, iodine deficiency, education.field_of_study, business.industry, Incidence (epidemiology), Metabolic disorder, General Medicine, medicine.disease, RC648-665, Iodine deficiency, chemistry, Thyroid Hypoplasia, newborn hyperthyrotropine-mia, business
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12
المصدر: Радиация и риск (Бюллетень Национального радиационно-эпидемиологического регистра).
وصف الملف: text/html
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13
المؤلفون: Peter Kopp, Mary P. Gillam
المصدر: Current Opinion in Pediatrics. 13:358-363
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Thyroid Nuclear Factor 1, endocrine system diseases, Thyroid Gland, Mice, PAX8 Transcription Factor, Hypothyroidism, Internal medicine, Congenital Hypothyroidism, medicine, Animals, Humans, Paired Box Transcription Factors, Euthyroid, business.industry, Thyroid, Nuclear Proteins, Forkhead Transcription Factors, medicine.disease, Normal thyroid function, Congenital hypothyroidism, DNA-Binding Proteins, Repressor Proteins, Endocrinology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Trans-Activators, Thyroid Hypoplasia, Hormone synthesis, Thyroid hormone synthesis, business, Transcription Factors
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14
المصدر: Hormone Research in Paediatrics. 70:316-318
مصطلحات موضوعية: Williams Syndrome, endocrine system, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, endocrine system diseases, Thyroid screening, Endocrinology, Diabetes and Metabolism, Thyroid Gland, Neonatal Screening, Endocrinology, Congenital Hypothyroidism, medicine, Humans, cardiovascular diseases, business.industry, Thyroid, Infant, Newborn, medicine.disease, humanities, Congenital hypothyroidism, Thyroxine, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Thyroid Hypoplasia, Female, Williams syndrome, Thyroid function, Ultrasonography, business
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15
المؤلفون: Joachim Pohlenz, Angela K Lucas-Herald, Pia Hermanns, Therese Bradley, Malcolm Donaldson, Morag Attaie, Jeremy Jones, Elaine Thompson
المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 26(5-6)
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Heterozygote, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Thyroid Gland, Thyrotropin, Reference range, Context (language use), medicine.disease_cause, Severity of Illness Index, Thyrotropin receptor, Endocrinology, Internal medicine, medicine, Humans, Point Mutation, Radionuclide Imaging, Ultrasonography, Mutation, business.industry, Thyroid, Infant, Newborn, Receptors, Thyrotropin, medicine.disease, Congenital hypothyroidism, Thyroxine, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Thyroid Dysgenesis, Thyroid Hypoplasia, business, Maternal grandmother
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16
المؤلفون: Tamer Gunes, Sena Kara Oncu, Selim Kurtoglu, Dilek Coban, Leyla Akin, Aslihan Kiraz, Mustafa Ali Akin
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: Microcephaly, Pediatrics, medicine.medical_specialty, endocrine system, congenital hyperthyroidism, endocrine system diseases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Case Reports, Thyroid function tests, Thyroid dysgenesis, Endocrinology, monozygotic twins, medicine, Congenital Hypothyroidism, Humans, Neonatology, Rubinstein-Taybi Syndrome, medicine.diagnostic_test, Rubinstein–Taybi syndrome, business.industry, Thyroid, thyroid hypoplasia, Infant, Newborn, Twins, Monozygotic, medicine.disease, Congenital hypothyroidism, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Thyroid Dysgenesis, Thyroglobulin, Female, business
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17
المؤلفون: Bülent Özçelik, Cem Batukan, Mustafa Basbug, Mahmut Tuncay Ozgun, Selim Kurtoglu, N. Murat
المصدر: Journal of clinical ultrasound : JCU. 38(9)
مصطلحات موضوعية: Adult, endocrine system, medicine.medical_specialty, endocrine system diseases, Prenatal diagnosis, Ultrasonography, Prenatal, Thyroid carcinoma, Iodine Radioisotopes, Fatal Outcome, Hypothyroidism, Pregnancy, medicine, Humans, Radiology, Nuclear Medicine and imaging, Thyroid Neoplasms, Gynecology, Fetus, Obstetrics, business.industry, Ultrasound, medicine.disease, Fetal Diseases, Prenatal Exposure Delayed Effects, Weeks pregnant, Thyroid Hypoplasia, Female, Radioactive iodine, business
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18
المؤلفون: Mudar Abdullah, Sami Boughattas, Ahmad Al Nammi
المصدر: Radiology. 267:313-314
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, MEDLINE, Thyroid Hypoplasia, Radiology, Nuclear Medicine and imaging, Radionuclide imaging, Ultrasonography, business, medicine.disease, Congenital hypothyroidism
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19
المؤلفون: Malcolm Donaldson, Anne S. Hollman, Rebecca J Perry, A M Wood
مصطلحات موضوعية: Male, medicine.medical_specialty, Thyroid Gland, Prolate spheroid, medicine, Humans, Prospective Studies, Ultrasonography, Sex Characteristics, business.industry, Ultrasound, Thyroid, Infant, Newborn, Obstetrics and Gynecology, General Medicine, Reference Standards, Lobe, Surgery, medicine.anatomical_structure, Volume (thermodynamics), Recien nacido, Pediatrics, Perinatology and Child Health, Thyroid Hypoplasia, Original Article, Female, business, Nuclear medicine
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20
المؤلفون: B. Moreno, J.J. Badiola
المصدر: Journal of Comparative Pathology. 148:100
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, medicine.anatomical_structure, General Veterinary, Retarded growth, business.industry, Internal medicine, Thyroid Hypoplasia, medicine, business, Pancreas, Pathology and Forensic Medicine