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المؤلفون: Laura Kalveram, Gunnar Kleinau, Kamila Szymańska, Patrick Scheerer, Adolfo Rivero-Müller, Annette Grüters-Kieslich, Heike Biebermann
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 20, Iss 22, p 5564 (2019)مصطلحات موضوعية: endocrine system, endocrine system diseases, MAP Kinase Signaling System, thyroid-stimulating hormone, Thyrotropin, beta Subunit, Second Messenger Systems, Article, lcsh:Chemistry, Protein Domains, Cell Line, Tumor, Congenital Hypothyroidism, Cyclic AMP, Humans, Extracellular Signal-Regulated MAP Kinases, lcsh:QH301-705.5, Receptors, Thyrotropin, TSHR, HEK293 Cells, G-protein coupled receptors, lcsh:Biology (General), lcsh:QD1-999, central congenital hypothyroidism, Mutation, GTP-Binding Protein alpha Subunits, Gq-G11, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0067649dc40effc38fc5cedcbb8583f9Test
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المؤلفون: Oliver Blankenstein, Maria E. Craig, Michaela Brückner-Spieler, Anne-Marie Stoehr, Heiko Krude, Peter Kühnen, Paulina E Aleksander, Erwin Lankes, Dirk Schnabel, Andrea Ernert, Walter Stäblein, Annette Grüters
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: Male, endocrine system, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Intelligence, Clinical Biochemistry, Levothyroxine, 030209 endocrinology & metabolism, Context (language use), Carotid Intima-Media Thickness, Biochemistry, Body Mass Index, Young Adult, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, Quality of life, 030225 pediatrics, Internal medicine, Congenital Hypothyroidism, medicine, Humans, Newborn screening, business.industry, Biochemistry (medical), Infant, Newborn, Wechsler Scales, Wechsler Adult Intelligence Scale, medicine.disease, Congenital hypothyroidism, Thyroxine, Cross-Sectional Studies, Quality of Life, Triiodothyronine, Female, business, Body mass index, Cohort study, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c7e261488b40464a19ca66e39c5aceTest
https://doi.org/10.1530/ey.15.3.7Test -
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المؤلفون: Susanna Wiegand, Keith Gottesdiener, Heiko Krude, Oliver Blankenstein, Ulrike Blume-Peytavi, Peter Kühnen, Annette Grüters, Lea L. Martini, Knut Mai, Karine Clément
المصدر: New England Journal of Medicine. 375:240-246
مصطلحات موضوعية: Adult, 0301 basic medicine, Agonist, endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, medicine.drug_class, Blood Pressure, Pilot Projects, 030209 endocrinology & metabolism, Hyperphagia, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Proopiomelanocortin, Internal medicine, Adrenal insufficiency, medicine, Humans, Obesity, Hydrocortisone, Setmelanotide, biology, business.industry, digestive, oral, and skin physiology, General Medicine, medicine.disease, Melanocortin 4 receptor, Pro-Opiomelanocortin Deficiency, Phenotype, 030104 developmental biology, Endocrinology, alpha-MSH, biology.protein, Receptor, Melanocortin, Type 4, Female, Melanocortin, business, Metabolism, Inborn Errors, hormones, hormone substitutes, and hormone antagonists, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f54de5d16542166c14e27363cc2e4fTest
https://doi.org/10.1056/nejmoa1512693Test -
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المؤلفون: Lutz Schomburg, Josef Köhrle, Laura Kalveram, Annette Grüters-Kieslich, Heike Biebermann, Mariusz W. Szkudlinski, Gunnar Kleinau
المصدر: Molecular Endocrinology. 30:954-964
مصطلحات موضوعية: 0301 basic medicine, Agonist, endocrine system, medicine.drug_class, Mutant, Thyrotropin, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Chorionic Gonadotropin, Thyrotropin receptor, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Humans, Receptor, Molecular Biology, Glycoproteins, Genetics, Mutation, Minireviews, General Medicine, Luteinizing Hormone, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, Follicle Stimulating Hormone, Signal transduction, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a0415d665f63a2a387870eb723a370cTest
https://doi.org/10.1210/me.2016-1065Test -
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المؤلفون: Heiko Krude, Tulay Guran, Peter Kühnen, Annette Grüters, Heike Biebermann, Saygin Abali, Wei Chen, Abdullah Bereket, Serap Turan, Sebastian Fröhler
المساهمون: Kuehnen, Peter, Turan, Serap, Froehler, Sebastian, Gueran, Tuelay, Abali, Saygin, Biebermann, Heike, Bereket, Abdullah, Grueters, Annette, Chen, Wei, Krude, Heiko
المصدر: The Journal of Clinical Endocrinology & Metabolism. 99:E169-E176
مصطلحات موضوعية: Male, Turkey, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, GENOTYPE-PHENOTYPE CORRELATION, Clinical Biochemistry, Biochemistry, NONSYNDROMIC HEARING-LOSS, Cohort Studies, Endocrinology, Missense mutation, SYNDROME GENE PDS, Exome sequencing, Sanger sequencing, EVA, Thyroid, Pedigree, Congenital hypothyroidism, medicine.anatomical_structure, Sulfate Transporters, Thyroid Dysgenesis, symbols, Female, IODIDE TRANSPORTER, endocrine system, medicine.medical_specialty, Adolescent, ENLARGEMENT, Context (language use), Biology, Thyroid dysgenesis, symbols.namesake, Internal medicine, Congenital Hypothyroidism, VESTIBULAR AQUEDUCT, medicine, Humans, Genetic Association Studies, POLYMORPHISMS, ENDEMIC CRETINISM, Biochemistry (medical), Membrane Transport Proteins, Pendrin, medicine.disease, Case-Control Studies, Mutation, CELLS, biology.protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dc7148e569514673c72285e61bccef0Test
https://doi.org/10.1210/jc.2013-2619Test -
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المؤلفون: Lin Lin, Rainer Rossi, Ilker Akkurt, John C. Achermann, Annette Grüters, Inas Mazen, Olaf Hiort, Heike Biebermann, Cigdem Cetindag, Birgit Köhler
المصدر: European Journal of Endocrinology
European Journal of Endocrinology, 161 (2) pp. 237-242. (2009)مصطلحات موضوعية: Anti-Mullerian Hormone, Male, Steroidogenic factor 1, endocrine system, medicine.medical_specialty, Hydrocortisone, Endocrinology, Diabetes and Metabolism, Steroidogenic Factor 1, medicine.disease_cause, Cohort Studies, chemistry.chemical_compound, Endocrinology, Dehydroepiandrosterone sulfate, Internal medicine, Hydroxyprogesterones, Adrenal insufficiency, medicine, Humans, Inhibins, Testosterone, Disorders of sex development, Hypospadias, Mutation, biology, Dehydroepiandrosterone Sulfate, business.industry, Infant, Newborn, Anti-Müllerian hormone, DNA, Sequence Analysis, DNA, General Medicine, medicine.disease, Penoscrotal hypospadias, chemistry, Mutagenesis, Site-Directed, Clinical Study, biology.protein, Follicle Stimulating Hormone, business, Adrenal Insufficiency
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10096ee108acae42c8cd1c8dc1d4c37aTest
https://doi.org/10.1530/eje-09-0067Test -
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المؤلفون: Zapico M, Annette Grüters, Dütting C, Pfeiffer E, Lehmkuhl U, K P Liesenkötter, Jenner A
المصدر: Experimental and Clinical Endocrinology & Diabetes. 105:28-31
مصطلحات موضوعية: Male, Paper, endocrine system, Pediatrics, medicine.medical_specialty, Goiter, endocrine system diseases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Thyroid Gland, Thyrotropin, Thyroglobulin, Neonatal Screening, Endocrinology, Hypothyroidism, Congenital Hypothyroidism, Internal Medicine, medicine, Humans, Ultrasonography, Intelligence Tests, Intelligence quotient, business.industry, Thyroid, Infant, Newborn, General Medicine, medicine.disease, Congenital hypothyroidism, Berlin, Thyroxine, medicine.anatomical_structure, Etiology, Female, Thyroid function, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b2f080404f6f97b891679e0d4c2657Test
https://doi.org/10.1055/s-0029-1211928Test -
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المؤلفون: Annette Grüters, Aubène Lèger, Theo J. Visser, Mariella D'Alessandro, Hans van Toor, Graziella Pinto, David Goudie, Michel Polak, Willem Klootwijk, José Moreno
المساهمون: Internal Medicine
المصدر: New England Journal of Medicine, 358(17), 1811-1818. Massachussetts Medical Society
مصطلحات موضوعية: Adult, Male, Monoiodotyrosine, endocrine system, medicine.medical_specialty, endocrine system diseases, DNA Mutational Analysis, Molecular Sequence Data, Deiodinase, Mutation, Missense, DIO2, medicine.disease_cause, Iodide Peroxidase, Polymerase Chain Reaction, Open Reading Frames, Thyroid dyshormonogenesis, Hypothyroidism, Internal medicine, Humans, Medicine, Missense mutation, Amino Acid Sequence, Child, Frameshift Mutation, music, Sequence Deletion, Mutation, music.instrument, biology, Goiter, business.industry, Homozygote, Thyroid, General Medicine, Middle Aged, medicine.disease, Congenital hypothyroidism, Phenotype, medicine.anatomical_structure, Endocrinology, Iodotyrosine deiodinase, biology.protein, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e1f0cf355c4cc81b00b32cf96fbb961Test
https://doi.org/10.1056/nejmoa0706819Test -
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المؤلفون: Annette Grüters, M. Lakomek, Heide Siggelkow, Michael Hüfner, C. Roth
المصدر: DMW - Deutsche Medizinische Wochenschrift. 122:572-577
مصطلحات موضوعية: endocrine system, Pediatrics, medicine.medical_specialty, endocrine system diseases, Dizygotic twin, 030209 endocrinology & metabolism, Trab, 03 medical and health sciences, 0302 clinical medicine, Thyroid peroxidase, medicine, Euthyroid, Pregnancy, Triiodothyronine, biology, business.industry, General Medicine, medicine.disease, 3. Good health, 030220 oncology & carcinogenesis, Failure to thrive, biology.protein, Propylthiouracil, medicine.symptom, business, hormones, hormone substitutes, and hormone antagonists, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3906bb5c4c0c2809703db59afd25fb7cTest
https://doi.org/10.1055/s-2008-1047656Test -
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المؤلفون: Branislav Radović, Julie Christoffel, Peter Josef Hofmann, Annette Grüters, Inga Nobis, Ludwik K. Malendowicz, Petra Ambrugger, Josef Köhrle, Cornelia Schmutzler, Anja Bacinski, Birgit Mentrup, Dana Seidlova-Wuttke, Wolfgang Wuttke, Luise Stemmler, Inka Gotthardt, Hubertus Jarry, Gábor L. Kovács
المصدر: Environmental Health Perspectives
مصطلحات موضوعية: deiodinase, Sodium-iodide symporter, Thyroid Hormones, endocrine system, medicine.medical_specialty, endocrine system diseases, Health, Toxicology and Mutagenesis, thyroid peroxidase, Thyrotropin, Endocrine Disruptors, In Vitro Techniques, pituitary, Iodide Peroxidase, transthyretin, Cell Line, malic enzyme, Rats, Sprague-Dawley, UV filters, Malate Dehydrogenase, Thyroid peroxidase, sodium iodide symporter, Internal medicine, medicine, Animals, media_common.cataloged_instance, Endocrine system, European union, media_common, Monograph, Thyroid hormone receptor, Triiodothyronine, thyroid gland, biology, Chemistry, Thyroid, Public Health, Environmental and Occupational Health, Rats, medicine.anatomical_structure, Endocrinology, flavonoids, biology.protein, Female, Biomarkers, Iodine, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca8871d5fabd1c56e54442cab8a9d9cdTest
https://doi.org/10.1289/ehp.9369Test