-
1
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/ -
2
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 -
3
المؤلفون: Lutz Schomburg, Josef Köhrle, Laura Kalveram, Annette Grüters-Kieslich, Heike Biebermann, Mariusz W. Szkudlinski, Gunnar Kleinau
المصدر: Molecular Endocrinology. 30:954-964
مصطلحات موضوعية: 0301 basic medicine, Agonist, endocrine system, medicine.drug_class, Mutant, Thyrotropin, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Chorionic Gonadotropin, Thyrotropin receptor, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Humans, Receptor, Molecular Biology, Glycoproteins, Genetics, Mutation, Minireviews, General Medicine, Luteinizing Hormone, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, Follicle Stimulating Hormone, Signal transduction, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a0415d665f63a2a387870eb723a370cTest
https://doi.org/10.1210/me.2016-1065Test -
4
المؤلفون: Birgit Köhler, Angela Hübner, Heiko Krude, Cigdem Cetingdag, Annette Grüters, Heike Biebermann, Maki Fukami, Inge-Lore Ruiz-Arana
المصدر: Sexual Development. 9:80-85
مصطلحات موضوعية: Genetics, Embryology, medicine.medical_specialty, Mutation, Endocrinology, Diabetes and Metabolism, Gonadal dysgenesis, Biology, medicine.disease, medicine.disease_cause, Transactivation, Endocrinology, Hypospadias, Hemizygote, Internal medicine, medicine, Missense mutation, Gene, Testosterone, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a2f74d3062849817f5b719695fd12e6bTest
https://doi.org/10.1159/000371603Test -
5
المؤلفون: Lin Lin, Rainer Rossi, Ilker Akkurt, John C. Achermann, Annette Grüters, Inas Mazen, Olaf Hiort, Heike Biebermann, Cigdem Cetindag, Birgit Köhler
المصدر: European Journal of Endocrinology
European Journal of Endocrinology, 161 (2) pp. 237-242. (2009)مصطلحات موضوعية: Anti-Mullerian Hormone, Male, Steroidogenic factor 1, endocrine system, medicine.medical_specialty, Hydrocortisone, Endocrinology, Diabetes and Metabolism, Steroidogenic Factor 1, medicine.disease_cause, Cohort Studies, chemistry.chemical_compound, Endocrinology, Dehydroepiandrosterone sulfate, Internal medicine, Hydroxyprogesterones, Adrenal insufficiency, medicine, Humans, Inhibins, Testosterone, Disorders of sex development, Hypospadias, Mutation, biology, Dehydroepiandrosterone Sulfate, business.industry, Infant, Newborn, Anti-Müllerian hormone, DNA, Sequence Analysis, DNA, General Medicine, medicine.disease, Penoscrotal hypospadias, chemistry, Mutagenesis, Site-Directed, Clinical Study, biology.protein, Follicle Stimulating Hormone, business, Adrenal Insufficiency
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10096ee108acae42c8cd1c8dc1d4c37aTest
https://doi.org/10.1530/eje-09-0067Test -
6
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 -
7
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 -
8
المؤلفون: Heike Biebermann, Heiko Krude, Annette Grüters
المصدر: Annals of the New York Academy of Sciences. 994:233-239
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, History and Philosophy of Science, Melanocortin receptor, Proopiomelanocortin, Internal medicine, medicine, Animals, Humans, POMC Gene Product, ACTH receptor, Genetic Testing, Obesity, Genetics, Mutation, Polymorphism, Genetic, integumentary system, biology, General Neuroscience, digestive, oral, and skin physiology, Melanocortin 3 receptor, Melanocortin 4 receptor, Phenotype, Endocrinology, biology.protein, Melanocortin, Peptides, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c20078ddc0b4fb42c621033e81fc538Test
https://doi.org/10.1111/j.1749-6632.2003.tb03185.xTest -
9
المؤلفون: Annette Grüters, Birgit Köhler, Dagmar l'Allemand, Brigitte Royer-Pokora, Valérie Schumacher
المصدر: The Journal of Pediatrics. 138:421-424
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Denys–Drash syndrome, Genes, Wilms Tumor, Adolescent, Tumor suppressor gene, urologic and male genital diseases, medicine.disease_cause, Germline, Nephropathy, Cryptorchidism, Humans, Point Mutation, Medicine, Hypospadias, Mutation, urogenital system, business.industry, Wilms' tumor, medicine.disease, female genital diseases and pregnancy complications, Phenotype, Testis determining factor, Pediatrics, Perinatology and Child Health, Cancer research, DAX1, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ec51f1333570a2ed76294aed18dc55Test
https://doi.org/10.1067/mpd.2001.112512Test -
10
المؤلفون: Angela Schulz, Maria Hoeltzenbein, Katharina Pasel, Guido Filler, Torsten Schöneberg, Annette Grüters, Knut Linnemann, Kirsten Timmermann, Jarmo Jääskeläinen
المصدر: The Journal of Clinical Endocrinology & Metabolism. 85:1703-1710
مصطلحات موضوعية: medicine.medical_specialty, Mutation, Vasopressin, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biology, Nephrogenic diabetes insipidus, medicine.disease, medicine.disease_cause, Biochemistry, Oxytocin receptor, Endocrinology, Internal medicine, Arginine vasopressin receptor 2, Diabetes insipidus, medicine, Missense mutation, Vasopressin receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8035e281995e13ad4ecfa0143d554214Test
https://doi.org/10.1210/jcem.85.4.6507Test