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: Anne Rediger, Patrick Tarnow, Gunnar Kleinau, Heiko Krude, Lisa Grohmann, Heike Biebermann, Gerd Krause, Annette Grüters, Dagmar l'Allemand, Imke Gaetjens, Franziska Winkler

المصدر: The Journal of clinical endocrinology and metabolism. 95(8)

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Heterozygote, endocrine system diseases, Adolescent, Genotype, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutant, Context (language use), Biology, medicine.disease_cause, Biochemistry, Hyperthyroidism, Thyrotropin receptor, Exon, Endocrinology, Internal medicine, medicine, Humans, Mutation, Biochemistry (medical), Wild type, Receptors, Thyrotropin, Transmembrane domain, Phenotype, Female, Signal transduction, hormones, hormone substitutes, and hormone antagonists

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d8043d69d027831799d49d8e86de7eTest
https://pubmed.ncbi.nlm.nih.gov/20501679Test

المؤلفون: Carmelina Milici, Timothy Barrett, Meriel McEntagart, Annette Grüters, Johan Svensson, Edna E. Mancilla, Edith C. H. Friesema, Neil Hopper, Maarten Reeser, Maria Heloisa Busi da Silva Canalli, Jurgen Jansen, Jean-Louis Wémeau, Theo J. Visser, Johan Lundgren, Monique H. A. Kester, Willem F. M. Arts

المساهمون: Internal Medicine, Neurology

المصدر: Journal of Clinical Endocrinology and Metabolism, 92(6), 2378-2381. Endocrine Society

مصطلحات موضوعية: Monocarboxylic Acid Transporters, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Nonsense mutation, medicine.disease_cause, Transfection, Biochemistry, Endocrinology, Internal medicine, Cell Line, Tumor, Intellectual Disability, medicine, Missense mutation, Humans, Point Mutation, Monocarboxylate transporter, Neurons, Mutation, Splice site mutation, biology, Psychomotor retardation, Symporters, Point mutation, Biochemistry (medical), Genetic Diseases, X-Linked, Codon, Nonsense, biology.protein, Triiodothyronine, RNA Splice Sites, medicine.symptom, Psychomotor Disorders, Psychomotor disorder, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38d5cb7103b6d666f980e3d30423eecaTest
https://pubmed.ncbi.nlm.nih.gov/17356046Test

المؤلفون: Valentin Rousson, Annette Grüters, Michael Schlumpf, Dagmar l'Allemand, Jürg Girard, Urs Eiholzer, Theo Gasser, Manuela Simoni

المصدر: The Journal of clinical endocrinology and metabolism. 91(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Gonad, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Reference range, Context (language use), Biochemistry, Chorionic Gonadotropin, Human chorionic gonadotropin, Endocrinology, Internal medicine, Medicine, Humans, Child, Testosterone, business.industry, Hypogonadism, Biochemistry (medical), Puberty, Bone age, Luteinizing Hormone, medicine.anatomical_structure, El Niño, Child, Preschool, Follicle Stimulating Hormone, business, Prader-Willi Syndrome, Hormone, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90533d366552fcb06b6ac86424025ddTest
https://pubmed.ncbi.nlm.nih.gov/16352691Test

المؤلفون: Claudia Hess, Torsten Schöneberg, Thomas Gudermann, Heike Biebermann, John Germak, Annette Grüters

المصدر: The Journal of clinical endocrinology and metabolism. 86(9)

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Thyroid Hormones, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutation, Missense, Thyrotropin, Biology, medicine.disease_cause, Biochemistry, Hyperthyroidism, Genetic determinism, Adenylyl cyclase, chemistry.chemical_compound, Endocrinology, Germline mutation, Thyroid-stimulating hormone, Internal medicine, medicine, Cyclic AMP, GTP-Binding Protein alpha Subunits, Gs, Animals, Humans, Receptor, Genetics, Mutation, Genome, Reverse Transcriptase Polymerase Chain Reaction, Biochemistry (medical), Receptors, Thyrotropin, DNA, Pedigree, Transmembrane domain, chemistry, Child, Preschool, Type C Phospholipases, COS Cells, Female, Age of onset, Adenylyl Cyclases, Plasmids

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4716145021c94c59fb3e10b925f4868Test
https://pubmed.ncbi.nlm.nih.gov/11549687Test

المؤلفون: U. Bogner, Annette Grüters, Horst Schleusener, B. Sigle, Hans Helge

المصدر: The Journal of clinical endocrinology and metabolism. 68(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Thyroid Hormones, Lysis, Endocrinology, Diabetes and Metabolism, Concordance, Clinical Biochemistry, Thyroid Gland, Fluorescent Antibody Technique, Biochemistry, Endocrinology, Hypothyroidism, Internal medicine, medicine, Congenital Hypothyroidism, Cytotoxic T cell, Humans, Cytotoxicity, Autoantibodies, Immunity, Cellular, biology, business.industry, Biochemistry (medical), Thyroid, Infant, Newborn, Thyroiditis, Autoimmune, Receptors, Thyrotropin, medicine.disease, Congenital hypothyroidism, Cytolysis, medicine.anatomical_structure, biology.protein, Female, Antibody, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f057692314402b47e20cb3bdaddac69Test
https://pubmed.ncbi.nlm.nih.gov/2645314Test