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المؤلفون: Franziska Rillig, Annette Grüters, Christoph Schramm, Heiko Krude
المصدر: Dtsch Arztebl Int
مصطلحات موضوعية: Adult, Rare Diseases, Adolescent, Exome Sequencing, Humans, Original Article, General Medicine, Prospective Studies, Registries
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c164912a21bb8e9b6aad2500f90deb93Test
https://europepmc.org/articles/PMC9664985Test/ -
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المؤلفون: Reiner Jumpertz von Schwartzenberg, Thomas Bobbert, Maria Brachs, Verena Leupelt, Heiko Krude, Annette Grüters-Kieslich, Joachim Spranger, Andrea Ernert, Knut Mai, Lukas Maurer
المصدر: Metabolism. 83:60-67
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Sympathetic Nervous System, Diet, Reducing, Endocrinology, Diabetes and Metabolism, Psychological intervention, 030204 cardiovascular system & hematology, Energy homeostasis, Body Weight Maintenance, law.invention, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Randomized controlled trial, Weight regain, Behavior Therapy, law, Weight loss, Internal medicine, Intervention (counseling), Weight Loss, medicine, Humans, Obesity, 030212 general & internal medicine, Life Style, business.industry, Middle Aged, medicine.disease, Combined Modality Therapy, Exercise Therapy, Weight Reduction Programs, Treatment Outcome, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b0f7f20f82d02ca1a5888f7c11156bTest
https://doi.org/10.1016/j.metabol.2018.01.003Test -
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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 -
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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: Birgit Köhler, Annette Grüters, Anke Lux, Elena Bennecke, Ute Thyen
المصدر: Clinical endocrinology. 86(4)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Population, Disorders of Sex Development, 030209 endocrinology & metabolism, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Quality of life, Internal medicine, Germany, Surveys and Questionnaires, Medicine, Humans, 030212 general & internal medicine, Disorders of sex development, Young adult, Psychiatry, education, Aged, education.field_of_study, Disorder of Sex Development, 46,XY, business.industry, Middle Aged, Androgen, medicine.disease, Distress, Psychological well-being, Androgens, Quality of Life, Female, business, Psychosocial, Stress, Psychological
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e71c374178ee5a6695698b451cde5dcTest
https://pubmed.ncbi.nlm.nih.gov/28005277Test -
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المؤلفون: Matt J. Silver, Paula Dominguez-Salas, Daniela Handke, Andrew M. Prentice, Jörg Gromoll, Sophie E. Moore, Robert A. Waterland, Branwen J. Hennig, Anke Hinney, Joachim Spranger, Johannes Hebebrand, Frank L. Heppner, Lena Walzer, Anthony J. C. Fulford, Peter Kühnen, Susanna Wiegand, Heiko Krude, Carsten Grötzinger, Annette Grüters
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pro-Opiomelanocortin, Physiology, Offspring, Medizin, Biology, Cohort Studies, 03 medical and health sciences, Missing heritability problem, Pregnancy, Genetic variation, Humans, Epigenetics, Melanocyte-Stimulating Hormones, Obesity, Allele, Molecular Biology, Alleles, Genetics, Body Weight, Genetic Variation, Cell Biology, Methylation, Sequence Analysis, DNA, Heritability, DNA Methylation, Middle Aged, Carbon, 030104 developmental biology, DNA methylation, Leukocytes, Mononuclear, CpG Islands, Female, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8993112223eb407813fb1897acb0a9e4Test
https://www.ncbi.nlm.nih.gov/pubmed/27568547Test -
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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: Eva Rettenbacher, Kurt Widhalm, Johannes Hebebrand, Heike Biebermann, Anke Hinney, Harald Brumm, Patrick Tarnow, Petra Ambrugger, Michael Schaefer, Annette Grüters, Anne Rediger, Gerd Krause, Gunnar Kleinau
المصدر: Obesity Facts. 1:155-162
مصطلحات موضوعية: Adult, Male, Models, Molecular, Heterozygote, Health (social science), Adolescent, Mutant, Transfection, Physiology (medical), Chlorocebus aethiops, Animals, Humans, Medicine, Obesity, Receptor, Genes, Dominant, COS cells, business.industry, Wild type, Hydrogen Bonding, Heterozygote advantage, Middle Aged, Cell biology, Transmembrane domain, Child, Preschool, COS Cells, Mutation, Mutation (genetic algorithm), Receptor, Melanocortin, Type 4, Original Article, Female, Signal transduction, business, Dimerization, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54e6a42c15827f45fdbf7c2bbab6c74Test
https://doi.org/10.1159/000138251Test -
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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