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المؤلفون: Wim Klootwijk, Marco Medici, Robin P. Peeters, Theo J. Visser, K. Herman de Waal, Erik Boot, W. Edward Visser, Gerda de Kuijper, Henk Goeman, Chantal Zevenbergen, Sylvia A. Huisman, P. Reed Larsen, Yolanda B. de Rijke, Marcel E Meima
المساهمون: Graduate School, Internal Medicine, Clinical Chemistry, Surgery
المصدر: Journal of clinical endocrinology and metabolism, 99(11), E2429-E2436. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 99(11), E2429-E2436. Endocrine Societyمصطلحات موضوعية: medicine.medical_specialty, Thyroid Hormones, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Deiodinase, DIO2, Context (language use), Biology, medicine.disease_cause, Biochemistry, Iodide Peroxidase, Polymorphism, Single Nucleotide, Endocrinology, Internal medicine, Intellectual Disability, Genetic variation, medicine, Humans, Genetics, Mutation, Biochemistry (medical), Thyroid, medicine.anatomical_structure, biology.protein, Neurocognitive, Hormone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed43bfb29d1775333b031554b9a23567
http://www.scopus.com/inward/record.url?scp=84910019797&partnerID=8YFLogxK -
2Mutations in MCT8 in Patients with Allan-Herndon-Dudley-Syndrome Affecting Its Cellular Distribution
المؤلفون: Wim Klootwijk, Robin P. Peeters, Gert-Jan Kremers, W. Edward Visser, Simone Kersseboom, Edith C. H. Friesema, Theo J. Visser
المساهمون: Internal Medicine, Pathology
المصدر: Molecular Endocrinology, 27(5), 801-813. The Endocrine Society
مصطلحات موضوعية: Cell Extracts, Monocarboxylic Acid Transporters, Cell Survival, Blotting, Western, Mutant, Transfection, Cell Line, Iodine Radioisotopes, Endocrinology, medicine, Animals, Humans, Molecular Biology, Gene, Original Research, Monocarboxylate transporter, Allan–Herndon–Dudley syndrome, Microscopy, Confocal, Symporters, biology, Membrane transport protein, Endoplasmic reticulum, HEK 293 cells, General Medicine, medicine.disease, Molecular biology, Muscular Atrophy, Protein Transport, Thyroxine, Mutation, Mental Retardation, X-Linked, biology.protein, Muscle Hypotonia, Triiodothyronine, Fluorescence Recovery After Photobleaching
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cf52178f9ec8ec9537d93da5d7a7e5
https://doi.org/10.1210/me.2012-1356 -
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المؤلفون: Wim Klootwijk, Edith C. H. Friesema, Theo J. Visser
المساهمون: Internal Medicine
المصدر: Endocrinology, 152(8), 3259-3267. Endocrine Society
مصطلحات موضوعية: Branchiostoma, medicine.medical_specialty, Molecular Sequence Data, Iodide Peroxidase, Cofactor, Dithiothreitol, chemistry.chemical_compound, Endocrinology, Chordata, Nonvertebrate, Internal medicine, Branchiostoma floridae, medicine, Animals, Amino Acid Sequence, SDG 14 - Life Below Water, Receptor, Gene, Cephalochordate, Base Sequence, biology, biology.organism_classification, Thyroxine, chemistry, Biochemistry, biology.protein, Triiodothyronine, Cysteine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01924b87507b05113a840483a5e9ad6d
https://doi.org/10.1210/en.2010-1408