-
1
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/ -
2
المؤلفون: Oliver Blankenstein, Maria E. Craig, Michaela Brückner-Spieler, Anne-Marie Stoehr, Heiko Krude, Peter Kühnen, Paulina E Aleksander, Erwin Lankes, Dirk Schnabel, Andrea Ernert, Walter Stäblein, Annette Grüters
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: Male, endocrine system, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Intelligence, Clinical Biochemistry, Levothyroxine, 030209 endocrinology & metabolism, Context (language use), Carotid Intima-Media Thickness, Biochemistry, Body Mass Index, Young Adult, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, Quality of life, 030225 pediatrics, Internal medicine, Congenital Hypothyroidism, medicine, Humans, Newborn screening, business.industry, Biochemistry (medical), Infant, Newborn, Wechsler Scales, Wechsler Adult Intelligence Scale, medicine.disease, Congenital hypothyroidism, Thyroxine, Cross-Sectional Studies, Quality of Life, Triiodothyronine, Female, business, Body mass index, Cohort study, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c7e261488b40464a19ca66e39c5aceTest
https://doi.org/10.1530/ey.15.3.7Test -
3
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 -
4
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 -
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: 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 -
7
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 -
8
المؤلفون: Theda Wessel, Eva Klopocki, Klemens Raile, Monika Maringa, Jürgen Weber, Dorothee Deiss, Thomas Riebel, Annette Grüters, Denise Horn, Dominik N. Müller, Martin Holder, A. Galler, Reinhard Ullmann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 94:2658-2664
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Disease, Biochemistry, Maturity onset diabetes of the young, Cohort Studies, Endocrinology, Internal medicine, Diabetes mellitus, Humans, Medicine, Hepatocyte Nuclear Factor 1-beta, Comparative Genomic Hybridization, Type 1 diabetes, business.industry, Biochemistry (medical), medicine.disease, HNF1B, HNF1A, Hepatocyte nuclear factors, Diabetes Mellitus, Type 2, Female, Chromosome Deletion, business, Chromosomes, Human, Pair 17, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a923df7e45789b30995670755b59cc6Test
https://doi.org/10.1210/jc.2008-2189Test -
9
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 -
10
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