المؤلفون: Katrin Sangkuhl, Anja Nuuja, Thomas Lennert, Günter Schultz, Angela Schulz, David A. Price, Annette Grüters, Marianne Wigger, Torsten Schöneberg

المصدر: The Journal of Clinical Endocrinology & Metabolism. 87:5247-5257

مصطلحات موضوعية: Male, Receptors, Vasopressin, medicine.medical_specialty, X Chromosome, Genetic Linkage, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Clinical Biochemistry, Mutant, Fluorescent Antibody Technique, Gene Expression, Diabetes Insipidus, Nephrogenic, Biology, Transfection, Biochemistry, Exon, Endocrinology, Cricetinae, Internal medicine, Arginine vasopressin receptor 2, medicine, Animals, Humans, Amino Acid Sequence, Codon, Receptor, Vasopressin receptor, Base Sequence, Biochemistry (medical), Aminoglycoside, Nephrogenic diabetes insipidus, medicine.disease, Stop codon, Anti-Bacterial Agents, COS Cells, Mutation, Female, Gentamicins, Sequence Alignment, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3b0b1800a3387e0114fc67aa024ff82Test
https://doi.org/10.1210/jc.2002-020286Test

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

المؤلفون: Olga Kordonouri, Albrecht Klinghammer, Annette Grüters-Kieslich, M. Grabert, Egbert B Lang, Reinhard W. Holl

المصدر: Diabetes Care. 25:1346-1350

مصطلحات موضوعية: Advanced and Specialized Nursing, Type 1 diabetes, medicine.medical_specialty, Pediatrics, biology, business.industry, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, medicine.disease, Anti-thyroid autoantibodies, Thyroiditis, Endocrinology, Thyroid peroxidase, Diabetes mellitus, Internal medicine, Cohort, Internal Medicine, medicine, biology.protein, Thyroglobulin, business, Subclinical infection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d76102adb0045d7aa313f582dbf891deTest
https://doi.org/10.2337/diacare.25.8.1346Test

المؤلفون: Heiko Krude, Barbara Schütz, Heike Biebermann, Arpad von Moers, Dirk Schnabel, Heidi Neitzel, Holger Tönnies, Dagmar Weise, Antony Lafferty, Siegfried Schwarz, Mario DeFelice, Andreas von Deimling, Frank van Landeghem, Roberto DiLauro, Annette Grüters

المصدر: Journal of Clinical Investigation. 109:475-480

مصطلحات موضوعية: Lung Diseases, Thyroid Nuclear Factor 1, Infant, Newborn, Nuclear Proteins, Syndrome, General Medicine, Thyroid Diseases, Article, Mice, Phenotype, Haplotypes, Central Nervous System Diseases, Multigene Family, Mutation, Animals, Humans, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82915634876a51ef158a70308631dc5bTest
https://doi.org/10.1172/jci0214341Test

المؤلفون: Inge-Lore, Ruiz-Arana, Angela, Hübner, Cigdem, Cetingdag, Heiko, Krude, Annette, Grüters, Maki, Fukami, Heike, Biebermann, Birgit, Köhler

المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 9(2)

مصطلحات موضوعية: Hemizygote, Transcriptional Activation, Disorder of Sex Development, 46,XY, Adolescent, Base Sequence, DNA Mutational Analysis, Molecular Sequence Data, Nuclear Proteins, DNA-Binding Proteins, Repressor Proteins, Mutation, Humans, Female, Amino Acid Sequence, Promoter Regions, Genetic, Sequence Alignment, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::878164830bbc9365a384b892deb42f76Test
https://pubmed.ncbi.nlm.nih.gov/25660412Test

المؤلفون: Annette Grüters, Markus Schuelke, Christof Dame, Ines Müller, Heike Biebermann, Hans-Jürgen Christen, Carsten G. Bönnemann, Patricia Crock, Reinhard Ullmann, Hans-Hilger Ropers, Grit Ebert, Matthias Griese, Anne Steininger, Pamela Schrumpf, Sabine Jyrch, Dietz Rating, Jacqueline K. Hewitt, Juri Katchanov, Iva Stoeva, Sarah Schnittert-Hübener, Francis deZegher, Anne Thorwarth, Heiko Krude, Christoph Hübner, Gunnar Kleinau, Barbara Plecko, Klaus Kapelari, Sten A. Ivarsson, Knut Brockmann

المساهمون: University of Zurich, Krude, Heiko

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Male, Candidate gene, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, DNA Copy Number Variations, Thyroid Nuclear Factor 1, Electrophoretic Mobility Shift Assay, 610 Medicine & health, Biology, Bioinformatics, Article, symbols.namesake, Germline mutation, 1311 Genetics, Molecular genetics, Genetics, medicine, Missense mutation, Humans, Point Mutation, Child, Genotyping, Genetics (clinical), Sanger sequencing, Comparative Genomic Hybridization, Point mutation, Genetic Diseases, Inborn, Infant, Newborn, Infant, Nuclear Proteins, Phenotype, 3. Good health, 10036 Medical Clinic, Child, Preschool, symbols, Female, Gene Deletion, Transcription Factors

وصف الملف: ThorwartA, 2014.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c4bb0d75cc5953a338ec723c1f6671Test
https://www.zora.uzh.ch/id/eprint/104724Test/

المؤلفون: Heike Biebermann, Mona K. Mekkawy, Abeer Atef, Hala Soliman, Anu Bashamboo, Annette Grüters, Heiko Krude, Sally Tantawy, Pamela Schrumpf, Marie-Charlotte Dumargne, Ahmed El-Kotoury, Ahmad Torky, Agnes Rudolf, Inas Mazen, Rebekka Astudillo, Ghada M. Anwar, Mona El-Gammal, Birgit Köhler

المصدر: European journal of endocrinology. 170(5)

مصطلحات موضوعية: Steroidogenic factor 1, Adult, Male, endocrine system, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Mutation, Missense, Biology, Bioinformatics, Steroidogenic Factor 1, Genetic analysis, Polymorphism, Single Nucleotide, Cohort Studies, Exon, Young Adult, Endocrinology, Internal medicine, medicine, Coding region, Missense mutation, Humans, Disorders of sex development, Child, Gene, Genetic Association Studies, Zinc finger, Genetics, Hypospadias, Disorder of Sex Development, 46,XY, Infant, General Medicine, Exons, medicine.disease, Recombinant Proteins, Amino Acid Substitution, Child, Preschool, Mutation, Egypt, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86941deae7bccdc5b2a8b18b3e2692b9Test
https://pubmed.ncbi.nlm.nih.gov/24591553Test

المؤلفون: Heiko Krude, Gunnar Kleinau, Carolin L. Piechowski, Chun-Xia Yi, Josef Köhrle, Annette Grüters, M. H. Tschöp, Daniela Nürnberg, Andrea M. Müller, Jessica Mühlhaus, Heike Biebermann, Juliane Dinter

المصدر: Experimental and Clinical Endocrinology & Diabetes. 122

مصطلحات موضوعية: MAPK/ERK pathway, Agonist, medicine.medical_specialty, medicine.drug_class, Endocrinology, Diabetes and Metabolism, General Medicine, Biology, Cell biology, 3-Iodothyronamine, chemistry.chemical_compound, Endocrinology, chemistry, TAAR1, Internal medicine, Internal Medicine, medicine, Inverse agonist, Signal transduction, Receptor, Trace amine-associated receptor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3a8525db8d5f66836b4e9d88966e1ecbTest
https://doi.org/10.1055/s-0034-1372013Test

المؤلفون: Annette Grüters-Kieslich

المصدر: Pädiatrie ISBN: 9783540718956
Pädiatrie ISBN: 9783662091777

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8b9c7b54f1cd3c6639ba7c8857401dbTest
https://doi.org/10.1007/978-3-642-41866-2_63Test

المؤلفون: Annette Grüters, Birgit Köhler, Dagmar l'Allemand, Brigitte Royer-Pokora, Valérie Schumacher

المصدر: The Journal of Pediatrics. 138:421-424

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Denys–Drash syndrome, Genes, Wilms Tumor, Adolescent, Tumor suppressor gene, urologic and male genital diseases, medicine.disease_cause, Germline, Nephropathy, Cryptorchidism, Humans, Point Mutation, Medicine, Hypospadias, Mutation, urogenital system, business.industry, Wilms' tumor, medicine.disease, female genital diseases and pregnancy complications, Phenotype, Testis determining factor, Pediatrics, Perinatology and Child Health, Cancer research, DAX1, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ec51f1333570a2ed76294aed18dc55Test
https://doi.org/10.1067/mpd.2001.112512Test