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1دورية أكاديمية
المؤلفون: Passchier, Emma M J, Kerst, Sven, Brouwers, Eelke, Hamilton, Eline M C, Bisseling, Quinty, Bugiani, Marianna, Waisfisz, Quinten, Kitchen, Philip, Unger, Lucas, Breur, Marjolein, Hoogterp, Leoni, de Vries, Sharon I, Abbink, Truus E M, Kole, Maarten H P, Leurs, Rob, Vischer, Henry F, Brignone, Maria S, Ambrosini, Elena, Feillet, François, Born, Alfred P, Epstein, Leon G, Mansvelder, Huibert D, Min, Rogier, van der Knaap, Marjo S
المساهمون: Sub Cell Biology, Cell Biology, Neurobiology and Biophysics
مصطلحات موضوعية: Aquaporin 4/genetics, Astrocytes/metabolism, Brain Edema/genetics, Brain/metabolism, Hereditary Central Nervous System Demyelinating Diseases/genetics, Humans, Membrane Proteins/genetics, Mutation/genetics, Receptors, G-Protein-Coupled/genetics, aquaporin-4, leukodystrophy, GPRC5B, brain oedema, volume regulation, Clinical Neurology
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., +17 additional authors
المصدر: Neurology Faculty Publications
مصطلحات موضوعية: DNA-Directed RNA Polymerases--metabolism, Genes, Recessive, Genetic Predisposition to Disease, Hereditary Central Nervous System Demyelinating Diseases--genetics, Neurology
وصف الملف: application/pdf
العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/259Test; https://hsrc.himmelfarb.gwu.edu/cgi/viewcontent.cgi?article=1260&context=smhs_neuro_facpubsTest
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3دورية 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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4دورية أكاديمية
المؤلفون: Gotoh, Leo, Inoue, Ken, Helman, Guy, Mora, Sara, Maski, Kiran, Soul, Janet S., Bloom, Miriam, Evans, Sarah H., Goto, Yu-ichi, Caldovic, Ljubica, Hobson, Grace M., Vanderver, Adeline
المصدر: Neurology Faculty Publications
مصطلحات موضوعية: Connexins--genetics, Hereditary Central Nervous System Demyelinating Diseases--genetics, Promoter Regions, Genetic, SOXE Transcription Factors--metabolism, Adult, Binding Sites, Child, Connexins, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Male, Molecular Sequence Data, Mutation, Myelin Sheath, Protein Binding, SOXE Transcription Factors, Neurology
العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/202Test; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=24374284Test
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5دورية أكاديمية
المؤلفون: Wolf, Nicole I., Vanderver, Adeline, van Spaendonk, Rosalina M., Schiffmann, Raphael, Brais, Bernard, +17 additional authors
المصدر: Neurology Faculty Publications
مصطلحات موضوعية: Hereditary Central Nervous System Demyelinating Diseases--diagnosis, Hereditary Central Nervous System Demyelinating Diseases--genetics, Mitochondrial Diseases--diagnosis, Mitochondrial Diseases--genetics, Mutation--genetics, RNA Polymerase III--genetics, Neurology
العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/180Test; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=25339210Test
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6دورية أكاديمية
المؤلفون: Daoud, Hussein, Tétreault, Martine, Gibson, William, Guerrero, Kether, Cohen, Ana, Gburek-Augustat, Janina, Synofzik, Matthis, Brais, Bernard, Stevens, Cathy A., Sanchez-Carpintero, Rocio, Goizet, Cyril, Naidu, Sakkubai, Vanderver, Adeline, Bernard, Genevieve
المصدر: Neurology Faculty Publications
مصطلحات موضوعية: Hereditary Central Nervous System Demyelinating Diseases--genetics, Hypogonadism--genetics, Mutation, RNA Polymerase III--genetics, Tooth Abnormalities--genetics, Neurology
العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/24Test; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=23355746Test
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7دورية أكاديمية
المصدر: Neurology 81(19), e145-e145 (2013). doi:10.1212/01.wnl.0000435300.64776.7e
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Anodontia: complications, Anodontia: genetics, Anodontia: pathology, Female, Hereditary Central Nervous System Demyelinating Diseases: complications, Hereditary Central Nervous System Demyelinating Diseases: genetics, Hereditary Central Nervous System Demyelinating Diseases: pathology, Humans, Magnetic Resonance Imaging, Mouth: pathology, RNA Polymerase III: genetics, POLR3B protein, human, RNA Polymerase III
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:24190003; info:eu-repo/semantics/altIdentifier/issn/0028-3878; https://pub.dzne.de/record/137248Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03570%22Test
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8دورية أكاديمية
المؤلفون: Daoud, Hussein, Tétreault, Martine, Goizet, Cyril, Naidu, Sakkubai, Vanderver, Adeline, Bernard, Geneviève, Gibson, William, Guerrero, Kether, Cohen, Ana, Gburek-Augustat, Janina, Synofzik, Matthis, Brais, Bernard, Stevens, Cathy A, Sanchez-Carpintero, Rocio
المصدر: Journal of medical genetics 50(3), 194-197 (2013). doi:10.1136/jmedgenet-2012-101357
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Amino Acid Sequence, Base Sequence, DNA Mutational Analysis, Hereditary Central Nervous System Demyelinating Diseases: genetics, Humans, Hypogonadism: genetics, Molecular Sequence Data, Mutation, RNA Polymerase III: genetics, Tooth Abnormalities: genetics, POLR3B protein, human, RNA Polymerase III
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1468-6244; info:eu-repo/semantics/altIdentifier/issn/0022-2593; info:eu-repo/semantics/altIdentifier/pmid/pmid:23355746; https://pub.dzne.de/record/136792Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03114%22Test
النص الكامل