-
1
المؤلفون: Gunnar Kleinau, Harald Jüppner, Sarah Paisdzior, Heiko Krude, John Gregory, Dirk Schnabel, Mehul T. Dattani, Thomas J. Gardella, Louise C. Wilson, Michael Mannstadt, Detlef Bockenhauer, Ian Tully, Jeremy Allgrove, Sarah Kiff, Heike Biebermann, Patrick Scheerer, Monica Reyes, Annette Grüters
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Heterozygote, Gs alpha subunit, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, DNA Mutational Analysis, Puberty, Precocious, 030209 endocrinology & metabolism, Context (language use), Biology, medicine.disease_cause, Biochemistry, Bone and Bones, Adenylyl cyclase, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Loss of Function Mutation, Internal medicine, medicine, GNAS complex locus, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, Humans, Receptor, Pseudohypoparathyroidism, Clinical Research Articles, Alleles, G protein-coupled receptor, Mutation, Biochemistry (medical), medicine.disease, 030104 developmental biology, Phenotype, chemistry, Amino Acid Substitution, Gain of Function Mutation, biology.protein, Female, Maternal Inheritance, Hyponatremia
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6549249d249e21c347aa4043aa794a5dTest
https://europepmc.org/articles/PMC6380466Test/ -
2
المؤلفون: Terry J. DeClue, Annette Grüters-Kieslich, Erwin Lankes, Amita Sharma, Cem Demirci, Dirk Schnabel, Monica Reyes, Harald Jüppner, Dov Tiosano
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatric Obesity, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, medicine.disease_cause, Bioinformatics, Biochemistry, Epigenesis, Genetic, Cohort Studies, Exon, Endocrinology, GTP-Binding Protein alpha Subunits, Gs, Medicine, Child, Mutation, biology, food and beverages, Methylation, Phenotype, Child, Preschool, Pseudohypoparathyroidism, DNA methylation, Female, STX16, musculoskeletal diseases, medicine.medical_specialty, Adolescent, Context (language use), Syntaxin 16, 03 medical and health sciences, Internal medicine, Chromogranins, GNAS complex locus, Humans, Epigenetics, Clinical Research Articles, business.industry, fungi, Biochemistry (medical), Infant, DNA Methylation, medicine.disease, Obesity, 030104 developmental biology, biology.protein, business, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c51d6290f0d12e13e36b51e8d9f931ceTest
https://doi.org/10.1530/ey.15.11.8Test -
3
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 -
4
المؤلفون: Maren Rehders, Lars C. Moeller, Annette Grüters, Klaudia Brix, Heike Biebermann, Peter Kühnen, Anita Kinne, Jana Fischer, Dagmar Führer, Anne Müller, Gunnar Kleinau, Denise Zwanziger, Heiko Krude
المصدر: Journal of Molecular Endocrinology. 54:39-50
مصطلحات موضوعية: Models, Molecular, Monocarboxylic Acid Transporters, Mutant, Medizin, Mutation, Missense, Context (language use), Chromosomal translocation, Biology, Protein Structure, Secondary, Endocrinology, INDEL Mutation, Chlorocebus aethiops, Animals, Humans, Protein Structure, Quaternary, Molecular Biology, Monocarboxylate transporter, Symporters, Translocon, Major facilitator superfamily, Transmembrane protein, Protein Structure, Tertiary, Muscular Atrophy, Protein Transport, Transmembrane domain, Biochemistry, COS Cells, Mental Retardation, X-Linked, biology.protein, Muscle Hypotonia, Protein Multimerization, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c005c2f78ccb3286db7aa629d6ffb11Test
https://doi.org/10.1530/jme-14-0272Test -
5
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 -
6
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 -
7
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 -
8
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 -
9
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 -
10
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