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المؤلفون: Annette Grüters, A S Paul van Trotsenburg, Marco Bonomi, Mehul T. Dattani, Georg Brabant, Ulla Feldt-Rasmussen, Luca Persani, Nadia Schoenmakers, Dominique Maiter, Eric Fliers
المساهمون: Schoenmakers, Nadia [0000-0002-0847-2884], Apollo - University of Cambridge Repository, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition
المصدر: European Thyroid Journal, Vol. 7, no. 5, p. 225-237 (2018)
مصطلحات موضوعية: Central hypothyroidism, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, TRH, Thyrotropin, 030209 endocrinology & metabolism, Context (language use), Guidelines, 03 medical and health sciences, 0302 clinical medicine, Hormone replacement therapy (female-to-male), Subclinical hypothyroidism, medicine, Association (psychology), Intensive care medicine, Thyroid, Task force, business.industry, Clinical trial, Thyroxine, medicine.anatomical_structure, Hormone replacement therapy, Pituitary, 030220 oncology & carcinogenesis, business, Cohort study
وصف الملف: application/msword
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f524100516cb0297ab0931fb249fedcfTest
https://doi.org/10.1530/ey.16.3.16Test -
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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: 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: 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 -
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المؤلفون: Annette Grüters, Heiko Krude
المصدر: Hormone Research in Paediatrics. 68:107-111
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Pediatrics, endocrine system diseases, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, Population, Thyrotropin, Reference range, Diagnostic Techniques, Endocrine, Thyroxine-binding globulin, Neonatal Screening, Endocrinology, Internal medicine, Congenital Hypothyroidism, medicine, Humans, education, Newborn screening, education.field_of_study, biology, business.industry, Thyroid, Infant, Newborn, medicine.disease, Congenital hypothyroidism, Thyroxine, medicine.anatomical_structure, Transgender hormone therapy, Pediatrics, Perinatology and Child Health, biology.protein, business, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d989f8f358bd622bc286da4e95a1ac57Test
https://doi.org/10.1159/000110591Test -
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المؤلفون: Osama A. Elsalini, Klaus B. Rohr, Georg C. Schwabe, Stefan Mundlos, Nele Haufs, Pamela Schrumpf, Burkhard Alt, Nathan D. Lawson, Annette Grüters, Heiko Krude
المصدر: Development
مصطلحات موضوعية: endocrine system, endocrine system diseases, Mesenchyme, Thyroid Gland, Morphogenesis, Embryonic Development, Mice, medicine.artery, medicine, Animals, Hedgehog Proteins, Aorta, Abdominal, Molecular Biology, Hedgehog, Zebrafish, Aorta, biology, Embryogenesis, Thyroid, Anatomy, biology.organism_classification, Phenotype, Mice, Mutant Strains, Carotid Arteries, medicine.anatomical_structure, Mutation, Endothelium, Vascular, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058a4cd5bcaacd9738266a304d4e4199Test
https://doi.org/10.1242/dev.02550Test -
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المؤلفون: Mojca Zerjav Tansek, Heiko Krude, Heike Biebermann, Primus E. Mullis, Dirk Schnabel, Annette Grüters, Pierre Theunissen
المصدر: The Journal of Clinical Endocrinology & Metabolism. 88:4633-4640
مصطلحات موضوعية: Thyroid Hormones, endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, Genotype, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Thyroid Gland, Compound heterozygosity, Biochemistry, Endocrinology, Adrenocorticotropic Hormone, Proopiomelanocortin, Internal medicine, Adrenal insufficiency, Humans, POMC Gene Product, Medicine, Obesity, Hair Color, biology, business.industry, Body Weight, digestive, oral, and skin physiology, Biochemistry (medical), Thyroid, Infant, Newborn, Infant, medicine.disease, Peptide Fragments, Pro-Opiomelanocortin Deficiency, Phenotype, medicine.anatomical_structure, Child, Preschool, biology.protein, Basal Metabolism, Melanocortin, business, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::147bb5793ed2e373ea4d20944695c478Test
https://doi.org/10.1210/jc.2003-030502Test -
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المؤلفون: Michael Obladen, Heike Biebermann, Annette Grüters, Klaus-Peter Liesenkötter, Michael Emeis
المصدر: Pediatric Research. 46:170-173
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Thyrotropin, medicine.disease_cause, Genetic determinism, Hypothyroidism, Internal medicine, Congenital Hypothyroidism, medicine, Humans, Endocrine system, Receptor, Mutation, business.industry, Homozygote, Thyroid, Infant, Newborn, medicine.disease, Pedigree, Congenital hypothyroidism, medicine.anatomical_structure, Endocrinology, Pediatrics, Perinatology and Child Health, Thyroid function, business, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4df85a97e92faf312804c717e339a438Test
https://doi.org/10.1203/00006450-199908000-00007Test -
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المؤلفون: Torsten Schöneberg, Annette Grüters, Günter Schultz, Thomas Gudermann, Heiko Krude, Heike Biebermann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 82:3471-3480
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Mutation, Candidate gene, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Point mutation, Biochemistry (medical), Clinical Biochemistry, Thyroid, Biology, medicine.disease_cause, medicine.disease, Biochemistry, Thyroid dysgenesis, eye diseases, Thyrotropin receptor, Congenital hypothyroidism, Frameshift mutation, Endocrinology, medicine.anatomical_structure, Internal medicine, medicine, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3758059f368e5b86c4a922b181484146Test
https://doi.org/10.1210/jcem.82.10.4286Test