المؤلفون: Gunnar Kleinau, Harald Jüppner, Sarah Paisdzior, Heiko Krude, John Gregory, Dirk Schnabel, Mehul T. Dattani, Thomas J. Gardella, Louise C. Wilson, Michael Mannstadt, Detlef Bockenhauer, Ian Tully, Jeremy Allgrove, Sarah Kiff, Heike Biebermann, Patrick Scheerer, Monica Reyes, Annette Grüters

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Heterozygote, Gs alpha subunit, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, DNA Mutational Analysis, Puberty, Precocious, 030209 endocrinology & metabolism, Context (language use), Biology, medicine.disease_cause, Biochemistry, Bone and Bones, Adenylyl cyclase, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Loss of Function Mutation, Internal medicine, medicine, GNAS complex locus, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, Humans, Receptor, Pseudohypoparathyroidism, Clinical Research Articles, Alleles, G protein-coupled receptor, Mutation, Biochemistry (medical), medicine.disease, 030104 developmental biology, Phenotype, chemistry, Amino Acid Substitution, Gain of Function Mutation, biology.protein, Female, Maternal Inheritance, Hyponatremia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6549249d249e21c347aa4043aa794a5dTest
https://europepmc.org/articles/PMC6380466Test/

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

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: 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

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

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

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: Birgit, Köhler, Eva, Kleinemeier, Anke, Lux, Olaf, Hiort, Annette, Grüters, Ute, Thyen, M, Schober

المصدر: Obstetrical & Gynecological Survey. 67:339-341

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Feminization (biology), Sexual Behavior, Clinical Biochemistry, Clitoris, Biochemistry, German, Young Adult, Endocrinology, Postoperative Complications, Quality of life, Internal medicine, Germany, Humans, Medicine, Sex organ, Genitalia, Disorders of sex development, Young adult, Gynecology, Disorder of Sex Development, 46,XY, business.industry, Biochemistry (medical), Obstetrics and Gynecology, Testosterone (patch), General Medicine, Middle Aged, medicine.disease, language.human_language, medicine.anatomical_structure, Patient Satisfaction, Case-Control Studies, Family medicine, Sexual life, Quality of Life, language, Genital surgery, Female, Hormone therapy, business, Clinical evaluation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534b7d877fa48c20e59f4ef79d961db6Test
https://doi.org/10.1097/ogx.0b013e318259bef1Test

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