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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: 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: 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, 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: 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 -
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المؤلفون: R Rossi, S Müther, Heiko Krude, R Jäger, W Rhode, Annette Grüters
المصدر: Zentralblatt für Gynäkologie. 125:226-228
مصطلحات موضوعية: medicine.medical_specialty, endocrine system diseases, medicine.medical_treatment, Vaginal Diseases, Thyrotropin, chemistry.chemical_element, Iodine, Ultrasonography, Prenatal, Hypothyroidism, Thyroid-stimulating hormone, Pregnancy, Internal medicine, Congenital Hypothyroidism, Twins, Dizygotic, medicine, Humans, Caesarean section, Euthyroid, Maternal-Fetal Exchange, Fetus, Cesarean Section, Obstetrics, business.industry, Suppositories, Infant, Newborn, Obstetrics and Gynecology, medicine.disease, Congenital hypothyroidism, Endocrinology, chemistry, Premature birth, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8990b5929171c02f09180e6987fb6e71Test
https://doi.org/10.1055/s-2003-42907Test