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1
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 -
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المؤلفون: Martina Jürgensen, Knut Werner-Rosen, Eva Kleinemeier, Anke Lux, Ute Thyen, Birgit Köhler, Elena Bennecke, Annette Grüters
المصدر: European Journal of Pediatrics. 174:1287-1297
مصطلحات موضوعية: Adult, Male, Parents, medicine.medical_specialty, Adolescent, Psychometrics, medicine.drug_class, Sex assignment, Disorders of Sex Development, Gonadal dysgenesis, Young Adult, Surveys and Questionnaires, Psychological support, Humans, Medicine, Congenital adrenal hyperplasia, Sexual Maturation, Disorders of sex development, Parent-Child Relations, Child, Retrospective Studies, Gynecology, business.industry, Middle Aged, Androgen, medicine.disease, Androgen synthesis, Hypospadias, Pediatrics, Perinatology and Child Health, Female, business, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3611592baf4c9f3d1a42831a18ee07a4Test
https://doi.org/10.1007/s00431-015-2530-8Test -
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المؤلفون: Heike Biebermann, Daniela Handke, Heiko Krude, Peter Kühnen, Annette Grüters, Burkhard Wiesner, Gunnar Kleinau, Franziska Winkler, Jenny Eichhorst, Fergus J. Cameron, Burkhard Gerling, Anke Teichmann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 97:E228-E232
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Amino Acid Motifs, Clinical Biochemistry, Biology, Transfection, Biochemistry, Protein Structure, Secondary, Receptors, G-Protein-Coupled, Substrate Specificity, Thyrotropin receptor, Endocrinology, Catalytic Domain, Internal medicine, Helix (Snails), Chlorocebus aethiops, medicine, Animals, Humans, Child, Receptor, Conserved Sequence, G protein-coupled receptor, Genetics, Biochemistry (medical), Infant, Newborn, Receptors, Thyrotropin, Transmembrane domain, HEK293 Cells, Structural Homology, Protein, COS Cells, Mutation, Motif (music), Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca878b66eaaf946d0d01a888dadc5d2Test
https://doi.org/10.1210/jc.2011-2106Test -
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المؤلفون: Annette Grüters, Dagmar l'Allemand, Heiko Krude, Peter Martus, Mareike Burmann, Hanna Hübel, Susanna Wiegand, Reinhard W. Holl
المصدر: European Journal of Endocrinology. 163:585-592
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Placebo, Body Mass Index, Placebos, Endocrinology, Insulin resistance, Weight loss, Internal medicine, Diabetes mellitus, medicine, Humans, Hypoglycemic Agents, Insulin, Obesity, Child, business.industry, Body Weight, Weight change, nutritional and metabolic diseases, General Medicine, medicine.disease, Metformin, Female, Insulin Resistance, medicine.symptom, Metabolic syndrome, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e267ffc4f5136a6ab0e58f7232ff01bTest
https://doi.org/10.1530/eje-10-0570Test -
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المؤلفون: L Schenk, Susanna Wiegand, Andrea Ernert, Anne-Madeleine Bau, Peter Martus, Heiko Krude, Annette Grüters
المصدر: European Journal of Endocrinology. 160:107-113
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Population, Overweight, Childhood obesity, Cohort Studies, Endocrinology, Surveys and Questionnaires, Internal medicine, medicine, Humans, Age of Onset, Child, education, Menarche, education.field_of_study, business.industry, Body Weight, General Medicine, medicine.disease, Cross-Sectional Studies, Multivariate Analysis, Cohort, Female, medicine.symptom, Age of onset, Underweight, business, Body mass index
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa520b2adc5a361f097e1a997f4e0c21Test
https://doi.org/10.1530/eje-08-0594Test -
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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: Heike Biebermann, Peter Heidemann, John C. Achermann, Bruno Ferraz-de-Souza, Vanessa Schröder, Lin Lin, Peter Wieacker, Birgit Köhler, Annette Grüters, Dirk Schnabel
المصدر: Human Mutation
مصطلحات موضوعية: Adult, Steroidogenic factor 1, endocrine system, medicine.medical_specialty, Adolescent, Nonsense mutation, NR5A1, Gonadal dysgenesis, Biology, Steroidogenic Factor 1, medicine.disease_cause, Frameshift mutation, Cohort Studies, Internal medicine, Adrenal Glands, Genetics, medicine, Adrenal insufficiency, Humans, Missense mutation, nuclear receptor, Child, steroidogenic factor-1, Genetics (clinical), Gonadal Dysgenesis, 46,XY, Mutation, gonadal dysgenesis, disorders of sex development (DSD), medicine.disease, SF1, Endocrinology, male pseudohermaphroditism, Child, Preschool, Female, Haploinsufficiency, Adrenal Insufficiency, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::143227e274ab3ab3c2d7ecfdb2890131Test
https://doi.org/10.1002/humu.20588Test -
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المؤلفون: Seyed Morteza Seifati, Andreas Tzschach, Masoumeh Falah, Hans-Hilger Ropers, Payman Jamali, Hossein Najmabadi, Reza Vazifehmand, Wei Chen, Valeh Hadavi, Franz Rüschendorf, Lars Riff Jensen, Sahar Esmaeeli Nieh, Annette Grüters, Masoud Garshasbi, Andreas W. Kuss, M. Mahdi Motazacker, Steffen Lenzner, Seyedeh Sedigheh Abedini, Kimia Kahrizi, Saghar Ghasemi Firouzabadi, Farkhondeh Behjati
المصدر: Human Genetics. 121:43-48
مصطلحات موضوعية: Adult, Genetic Markers, Male, Genes, Recessive, Locus (genetics), Consanguinity, Iran, Biology, Genetic Heterogeneity, Gene mapping, Intellectual Disability, Genetics, Humans, Family, Child, Genetics (clinical), Autosome, Genetic heterogeneity, Homozygote, Disease gene identification, Human genetics, Pedigree, Genetic marker, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38dfc2682ee6996390ecd34fe049294cTest
https://doi.org/10.1007/s00439-006-0292-0Test -
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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/ -
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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