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

المؤلفون: Mojca Zerjav Tansek, Heiko Krude, Heike Biebermann, Primus E. Mullis, Dirk Schnabel, Annette Grüters, Pierre Theunissen

المصدر: The Journal of Clinical Endocrinology & Metabolism. 88:4633-4640

مصطلحات موضوعية: Thyroid Hormones, endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, Genotype, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Thyroid Gland, Compound heterozygosity, Biochemistry, Endocrinology, Adrenocorticotropic Hormone, Proopiomelanocortin, Internal medicine, Adrenal insufficiency, Humans, POMC Gene Product, Medicine, Obesity, Hair Color, biology, business.industry, Body Weight, digestive, oral, and skin physiology, Biochemistry (medical), Thyroid, Infant, Newborn, Infant, medicine.disease, Peptide Fragments, Pro-Opiomelanocortin Deficiency, Phenotype, medicine.anatomical_structure, Child, Preschool, biology.protein, Basal Metabolism, Melanocortin, business, hormones, hormone substitutes, and hormone antagonists, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::147bb5793ed2e373ea4d20944695c478Test
https://doi.org/10.1210/jc.2003-030502Test

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: Sebastian, Schuchmann, Sarah, Hauck, Stephan, Henning, Annette, Grüters-Kieslich, Sampsa, Vanhatalo, Dietmar, Schmitz, Kai, Kaila

المصدر: Epilepsia. 52(11)

مصطلحات موضوعية: Acid-Base Equilibrium, Male, Fever, Scarlet Fever, Infant, Fever of Unknown Origin, Seizures, Febrile, Gastroenteritis, Otitis Media, Tonsillitis, Chickenpox, Child, Preschool, Urinary Tract Infections, Humans, Female, Emergency Service, Hospital, Alkalosis, Respiratory

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::eb0ab329bdfaa46ffaacefa6da148a21Test
https://pubmed.ncbi.nlm.nih.gov/21910730Test

المؤلفون: Marc de Kerdanet, Benoit Cammas, Michel Polak, Nicos Skordis, M. Eunice, Nadège Servant, Dominique Simon, Sylvie Tenoutasse, Françoise Audran, Philippe Bouchard, Bruno Leheup, Patrick Fénichel, Clarisse Baumann, Mona M. Hafez, Zeev Hochberg, Guy Van Vliet, Maryse Cartigny, Gönül Öcal, Horia H. Al Mawlawi, Laurent Maïmoun, Sylvia S. Einaudi, Françoise Paris, Annette Grüters, Serge Lumbroso, Cristóbal C.J. Del Valle Nuñez, Rachel Reynaud, Catherine Pienkowski, Ariachery C. Ammini, Merih Berberoğlu, Sylvie Cabrol, Charles Sultan, Claudine Heinrichs, Inas Mazen, Kabangu K. Kayemba-Kay's, Francois Kurtz, Pascal Philibert

المصدر: The Journal of clinical endocrinology and metabolism. 96(2)

مصطلحات موضوعية: Male, medicine.medical_specialty, Heterozygote, Adolescent, Genotype, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 5α-Reductase deficiency, Disorders of Sex Development, Consanguinity, Biology, Genitalia, Male, Biochemistry, Cohort Studies, Young Adult, Endocrinology, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Internal medicine, medicine, Humans, Testosterone, Allele, Child, Alleles, Genetics, Polymorphism, Genetic, Biochemistry (medical), Infant, Membrane Proteins, Heterozygote advantage, Dihydrotestosterone, DNA, Exons, Genitalia, Female, Androgen-Insensitivity Syndrome, medicine.disease, Phenotype, Amino Acid Substitution, Child, Preschool, Cohort, Mutation, Female, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd289be9940fd8139a9402d15797f793Test
https://pubmed.ncbi.nlm.nih.gov/21147889Test

المؤلفون: Andreas, Wiefel, Karl, Titze, Lena, Kuntze, Mirja, Winter, Corinna, Seither, Ben, Witte, Klaus, Lenz, Annette, Grüters, Ulrike, Lehmkuhl

المصدر: Praxis der Kinderpsychologie und Kinderpsychiatrie. 56(1)

مصطلحات موضوعية: Male, Child, Preschool, Developmental Disabilities, Mental Disorders, Humans, Infant, Reproducibility of Results, Female, Child Behavior Disorders, Documentation, Personality Assessment, Mother-Child Relations

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8df77b7673467928268f977562857467Test
https://pubmed.ncbi.nlm.nih.gov/17323818Test

المؤلفون: Karl Titze, Mirja Winter, Lena Kuntze, Corinna Seither, Klaus Lenz, Ben Witte, Annette Grüters, Andreas Wiefel, Ulrike Lehmkuhl

المصدر: Praxis der Kinderpsychologie und Kinderpsychiatrie 56 (2007) 1, S. 59-81

مصطلحات موضوعية: Pädagogik der frühen Kindheit, Pediatrics, Psychologische Messung, Research Diagnostic Criteria Infantilism, Praxis, Klassifikation, Verhaltensauffälligkeit, Kind, Verhalten, 370 Erziehung, Schul- und Bildungswesen, Kindergarten child, Kindergarten, Verhaltensstörung, Evidence, Practice, Psychodiagnostik, Psychopathology, Infantilismus, Verhaltensstörungen, Pädagogische Psychologie, Psychological Assessment, Classification, Diagnostic classification, Verhaltensprobleme, Psychopathologie, Preschool Students, 370 Education, Personality Assessment Inventory, Psychology, Developmental psychopathology, Typology, Problem, medicine.medical_specialty, Psychotherapist, Erziehung, Schul- und Bildungswesen, Säugling, Typologie, Education, Infant psychiatry, Diagnostik, ddc:370, Kleinkind, medicine, Psychological testing, Diagnostic, Behavior Problems, Forschung, Kindergartenkind, Research, Qualitätsstandard, Infant, Psychodiagnostics, Evidenz, Behavior Disorders, Kindergartenkinder

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fce81e06941b6dff4dc487a6f99ab49Test

المؤلفون: Annette Grüters, Dagmar l’Allemand, Heiko Krude, J H von Heppe, Dirk Schnabel

المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 17(7)

مصطلحات موضوعية: endocrine system, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Initial dose, Urology, Dosage form, Endocrinology, Hypothyroidism, medicine, Congenital Hypothyroidism, Humans, Initial therapy, Dosage Forms, Dose-Response Relationship, Drug, business.industry, Optimal treatment, Thyroid, Infant, Newborn, Infant, medicine.disease, Congenital hypothyroidism, Solutions, Dose–response relationship, Thyroxine, medicine.anatomical_structure, Median time, Pediatrics, Perinatology and Child Health, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888cc761f6ed41f02096964983f1cc20Test
https://pubmed.ncbi.nlm.nih.gov/15301044Test

المؤلفون: Heiko Krude, Annette Grüters, Vladimir Chubanov, Thomas Gudermann, Heike Biebermann, Andrea Elsner

المصدر: Diabetes. 52(12)

مصطلحات موضوعية: Heterozygote, Endocrinology, Diabetes and Metabolism, Mutant, Enzyme-Linked Immunosorbent Assay, Biology, medicine.disease_cause, Transfection, Severity of Illness Index, Cohort Studies, Melanocortin receptor, Gene Frequency, Internal Medicine, medicine, Fluorescence Resonance Energy Transfer, Missense mutation, Animals, Humans, Obesity, Age of Onset, Receptor, Genes, Dominant, Genetics, Mutation, Infant, Melanocortin 4 receptor, Case-Control Studies, COS Cells, Receptor, Melanocortin, Type 4, Female, Signal transduction, Haploinsufficiency, Dimerization, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7d565849392a2c663194721bcf206bTest
https://pubmed.ncbi.nlm.nih.gov/14633860Test