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1دورية أكاديمية
المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Naidu, Sakkubai, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Pohl, Daniela, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Cayami, Ferdy K, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Kragelöh-Mann, Ingeborg, Mirchi, Amytice, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Saikali, Stephan, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Tran, Luan T, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Ulrick, Nicole, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Guerrero, Kether, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Rampakakis, Emmanouil, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, van Spaendonk, Rosalina M L, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László
المصدر: The journal of clinical endocrinology & metabolism 106(2), e660 - e674 (2021). doi:10.1210/clinem/dgaa700
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Biological Variation, Population, Child, Preschool, Cohort Studies, Cross-Sectional Studies, DNA-Directed RNA Polymerases: genetics, Endocrine System Diseases: epidemiology, Endocrine System Diseases: etiology, Endocrine System Diseases: genetics, Female, Genetic Heterogeneity, Growth Disorders: epidemiology, Growth Disorders: etiology, Growth Disorders: genetics, Hereditary Central Nervous System Demyelinating Diseases: complications, Hereditary Central Nervous System Demyelinating Diseases: epidemiology, Hereditary Central Nervous System Demyelinating Diseases: genetics, Humans, Hypogonadism: epidemiology, Hypogonadism: etiology, Infant, Newborn, Male, Mitochondrial Diseases: complications, Mitochondrial Diseases: epidemiology, Mitochondrial Diseases: genetics
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1945-7197; info:eu-repo/semantics/altIdentifier/pmid/pmid:33005949; info:eu-repo/semantics/altIdentifier/issn/2578-7241; info:eu-repo/semantics/altIdentifier/issn/0021-972X; info:eu-repo/semantics/altIdentifier/issn/0368-1610; https://pub.dzne.de/record/164192Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00848%22Test
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2دورية أكاديمية
المؤلفون: Aarskog, D, Bjerknes, R
المصدر: Pediatrisk Endokrinologi. 17(1):44
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3دورية أكاديمية
المصدر: European Journal of Endocrinology
مصطلحات موضوعية: Endocrine System Diseases/genetics/*therapy, Endocrinology/*methods/trends, Female, Hormone Replacement Therapy/methods/trends, Humans, Male
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/10214Test; urn:hdl:1765/10214
الإتاحة: http://repub.eur.nl/pub/10214Test
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4دورية أكاديمية
المؤلفون: Albretsen, C S, Albretsen, C
المصدر: Tidsskrift for Den Norske Laegeforening. 119(8):1115
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المؤلفون: White, Kenneth E, Larsson, Tobias E, Econs, Michael J
المصدر: Endocr Rev. 27(3):221-41
مصطلحات موضوعية: Animals, Endocrine System Diseases/*genetics, Extracellular Matrix Proteins/*metabolism, Fibroblast Growth Factors/*metabolism, Glycoproteins/*metabolism, Homeostasis/genetics/physiology, Humans, Kidney Failure, Chronic/*genetics, Mice, Nevus/genetics, Osteochondrodysplasias/genetics, Parathyroid Diseases/genetics, Phosphates/*metabolism, Phosphoproteins/*metabolism, Proteins/metabolism, Proto-Oncogene Proteins/*metabolism, Skin Neoplasms/genetics
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-13192Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=16467171&dopt=CitationTest -
6دورية أكاديمية
المؤلفون: Vassart, Gilbert, Costagliola, Sabine
المصدر: Nature reviews. Endocrinology, 7 (6
مصطلحات موضوعية: Sciences biomédicales, Endocrine System Diseases -- genetics, Humans, Models, Biological, Mutation -- physiology, Protein Binding -- genetics -- physiology, Receptors, G-Protein-Coupled -- genetics -- metabolism -- physiology, Signal Transduction -- genetics -- physiology
وصف الملف: No full-text files
العلاقة: uri/info:doi/10.1038/nrendo.2011.20; uri/info:pii/nrendo.2011.20; uri/info:pmid/21301490; uri/info:scp/79957562543; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/124787Test
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المؤلفون: Strömsöe, K, Höiseth, A
المصدر: Tidsskrift for Den Norske Laegeforening. 126(4):483
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8دورية أكاديمية
المؤلفون: Stratakis, C. A., Kirschner, L. S., Taymans, S. E., Tomlinson, I. P., Marsh, D. J., Torpy, D. J., Giatzakis, C., Eccles, D. M., Theaker, J., Houlston, R. S., Blouin, Jean-Louis, Antonarakis, Stylianos, Basson, C. T., Eng, C., Carney, J. A.
المصدر: ISSN: 0021-972X ; The Journal of clinical endocrinology and metabolism, vol. 83, no. 8 (1998) p. 2972-2976.
مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Adolescent, Adult, Child, Chromosome Mapping, Endocrine System Diseases/ genetics, Female, Genetic Markers, Hamartoma Syndrome, Multiple/ genetics, Humans, Lentigo/ genetics, Lod Score, Loss of Heterozygosity, Male, Neoplastic Syndromes, Hereditary/ genetics, Pedigree, Peutz-Jeghers Syndrome/ genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/9709978; https://archive-ouverte.unige.ch/unige:9043Test; unige:9043
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المؤلفون: Stratakis, C, Kirschner, L, Taymans, SE, Tomlinson, I, Marsh, D, Torpy, D, Giatzakis, C, Eccles, D, Theaker, J, Houlston, R, Blouin, J, Antonarakis, SE, Basson, C, Eng, C, Carney, J
المصدر: Journal of Clinical Endocrinology and Metabolism, Vol. 83, No 8 (1998) pp. 2972-2976
مصطلحات موضوعية: ddc:616, Adult, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Endocrine System Diseases/ genetics, Neoplastic Syndromes, Hereditary/ genetics, Peutz-Jeghers Syndrome/ genetics, Chromosome Mapping, Loss of Heterozygosity, Pedigree, Lentigo/ genetics, Hamartoma Syndrome, Multiple/ genetics, Humans, Female, Lod Score, skin and connective tissue diseases, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::de56fbdc0fd3faeadcca51232d61cb74Test
https://archive-ouverte.unige.ch/unige:9043Test -
10مورد إلكتروني
المصدر: Nature reviews. Endocrinology, 7 (6
مصطلحات الفهرس: Sciences biomédicales, Endocrine System Diseases -- genetics, Humans, Models, Biological, Mutation -- physiology, Protein Binding -- genetics -- physiology, Receptors, G-Protein-Coupled -- genetics -- metabolism -- physiology, Signal Transduction -- genetics -- physiology, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
