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المؤلفون: Thomas Klopstock, Andreas Zimmer, Ulrich Schweizer, Helmut Fuchs, Cristiane Blechschmidt, Josef Köhrle, Valerie Gailus-Durner, Lore Becker, Annette Grüters, Wolfgang Wurst, Ildiko Racz, Stephan Roth, Anja U. Bräuer, Sabine M. Hölter, Thomas Naumann, Eva K. Wirth, Martin Hrabé de Angelis
المصدر: The Journal of Neuroscience. 29:9439-9449
مصطلحات موضوعية: Monocarboxylic Acid Transporters, medicine.medical_specialty, Amino Acid Transport System y+, Neuropsychological Tests, Hyperthyroidism, Mice, Hypothyroidism, Internal medicine, medicine, Animals, Humans, RNA, Messenger, Cells, Cultured, Thyroid hormone transport, Mice, Knockout, Neurons, Monocarboxylate transporter, Allan–Herndon–Dudley syndrome, Triiodothyronine, Behavior, Animal, Symporters, biology, Fusion Regulatory Protein 1, Light Chains, General Neuroscience, Brain, Membrane Transport Proteins, Transporter, Syndrome, Articles, Human brain, medicine.disease, Phenotype, medicine.anatomical_structure, Endocrinology, Symporter, Mental Retardation, X-Linked, biology.protein, Microglia, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f883c89e2a4fd917078ccfb93361ec6Test
https://doi.org/10.1523/jneurosci.6055-08.2009Test -
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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: Harald Brumm, Dirk Schnabel, Dorothee Deiss, Annette Grüters, Heike Biebermann, Arne Pfeufer
المصدر: The Journal of Clinical Endocrinology & Metabolism. 87:4811-4816
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Thyrotropin, Biology, Polymorphism, Single Nucleotide, Biochemistry, Neonatal Screening, Endocrinology, Gene Frequency, Hypothyroidism, Polymorphism (computer science), Germany, Internal medicine, Central hypothyroidism, medicine, Humans, Allele, education, Alleles, Genetics, education.field_of_study, Genetic Carrier Screening, Homozygote, Biochemistry (medical), Haplotype, Infant, Newborn, Pedigree, Haplotypes, Mutation, Mutation (genetic algorithm), Microsatellite, Female, Microsatellite Repeats, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07dc8c480f33299518d1a81981fd8c6bTest
https://doi.org/10.1210/jc.2002-020297Test -
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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: 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 -
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المؤلفون: Heiko Krude, Heike Biebermann, Annette Grüters
المصدر: European journal of endocrinology. 151
مصطلحات موضوعية: Mental development, Central Nervous System, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Central nervous system, LIM-Homeodomain Proteins, Hypothalamus, Thyroid Gland, Biology, Mice, Endocrinology, Hypothyroidism, Internal medicine, medicine, Central hypothyroidism, Congenital Hypothyroidism, Animals, Humans, Homeodomain Proteins, Newborn screening, Thyroid, General Medicine, medicine.disease, Congenital hypothyroidism, medicine.anatomical_structure, Thyroid hormones, Pituitary Gland, Female, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbad5564d5c2cc427179ae61180d26aeTest
https://pubmed.ncbi.nlm.nih.gov/15554885Test -
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المؤلفون: Annette Grüters, Dagmar l’Allemand, Heiko Krude, J H von Heppe, Dirk Schnabel
المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 17(7)
مصطلحات موضوعية: endocrine system, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Initial dose, Urology, Dosage form, Endocrinology, Hypothyroidism, medicine, Congenital Hypothyroidism, Humans, Initial therapy, Dosage Forms, Dose-Response Relationship, Drug, business.industry, Optimal treatment, Thyroid, Infant, Newborn, Infant, medicine.disease, Congenital hypothyroidism, Solutions, Dose–response relationship, Thyroxine, medicine.anatomical_structure, Median time, Pediatrics, Perinatology and Child Health, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888cc761f6ed41f02096964983f1cc20Test
https://pubmed.ncbi.nlm.nih.gov/15301044Test -
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المؤلفون: Heiko Krude, Heike Biebermann, Annette Grüters
المصدر: Hormone research. 59
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Thyroid Gland, medicine.disease_cause, Bioinformatics, Iodide Peroxidase, Endocrinology, Neonatal Screening, Thyroid-stimulating hormone, Hypothyroidism, Internal medicine, medicine, Central hypothyroidism, Congenital Hypothyroidism, Endocrine system, Animals, Humans, Mutation, biology, business.industry, Thyroid, Infant, Newborn, Receptors, Thyrotropin, Pendrin, medicine.disease, Congenital hypothyroidism, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, biology.protein, business, hormones, hormone substitutes, and hormone antagonists, Rare disease, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::037f79a35aaf01c4baf067415b9f0cbfTest
https://pubmed.ncbi.nlm.nih.gov/12566717Test -
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المؤلفون: Heiko Krude, Anja Jenner, Annette Grüters
المصدر: Best practiceresearch. Clinical endocrinologymetabolism. 16(2)
مصطلحات موضوعية: Mental development, Pediatrics, medicine.medical_specialty, Pathology, Thyroid Hormones, Brain development, Time Factors, Endocrinology, Diabetes and Metabolism, Late onset, Congenital Abnormalities, Endocrinology, Neonatal Screening, Hypothyroidism, Intellectual Disability, Intellectual disability, medicine, Congenital Hypothyroidism, Humans, Newborn screening, business.industry, Thyroid, Infant, Newborn, medicine.disease, Congenital hypothyroidism, medicine.anatomical_structure, Treatment Outcome, Mutation, Nervous System Diseases, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaf16aa325a4ced24d912e5aec7afc4bTest
https://pubmed.ncbi.nlm.nih.gov/12064898Test