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المؤلفون: Storlazzi, Tiziana, Mertens, Fredrik, Nascimento, Antonio, Isaksson, Margareth, Wejde, Johan, Brosjo, Otte, Mandahl, Nils, Panagopoulos, Ioannis
المصدر: Human Molecular Genetics. 12(18):2349-2358
مصطلحات موضوعية: Adolescent, Adult, Amino Acid Sequence, Artificial Gene Fusion, Base Sequence, Chromosomes, Human, Pair 16, Pair 7, Dimerization, Exons, Female, Humans, Hydrophobic and Hydrophilic Interactions, In Situ Hybridization, Fluorescence, Leucine Zippers, Liposarcoma, Myxoid, Male, Molecular Sequence Data, Open Reading Frames, Protein Structure, Secondary, Tertiary, RNA-Binding Protein FUS, Recombinant Fusion Proteins, Reverse Transcriptase Polymerase Chain Reaction, Sequence Homology, Amino Acid, Translocation, Genetic, Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics, Klinisk medicin, Cancer och onkologi, Clinical Medicine, Cancer and Oncology
الوصول الحر: https://lup.lub.lu.se/record/117327Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12915480&dopt=AbstractTest
http://dx.doi.org/10.1093/hmg/ddg237Test -
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المؤلفون: Walters, R G, Jacquemont, S, Valsesia, A, de Smith, A J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J S, Chèvre, J-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J L, Boute, O, Holder-Espinasse, M, Cuisset, J-M, Lemaitre, M-P, Ambresin, A-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J-L, Le Caignec, C, David, A, Isidor, B, Cordier, M-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Ounap, K, Bochukova, E G, Henning, E, Keogh, J, Ellis, R J, Macdermot, K D, van Haelst, M M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A-L, McCarthy, M I, Peltonen, L, Carlsson, Lena M S, 1957, Jacobson, Peter, 1962, Sjöström, Lars, Huang, N, Hurles, M E, O'Rahilly, S, Farooqi, I S, Männik, K, Jarvelin, M-R, Pattou, F, Meyre, D, Walley, A J, Coin, L J M, Blakemore, A I F, Froguel, P, Beckmann, J S
المصدر: Nature. 463(7281):671-5
مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, Adolescent, Adult, Age of Onset, Aging, Body Mass Index, Case-Control Studies, Child, Chromosome Deletion, Chromosomes, Human, Pair 16, genetics, Cognition Disorders, complications, Cohort Studies, Europe, Female, Genome-Wide Association Study, Heterozygote, Humans, Inheritance Patterns, Male, Mutation, Obesity, physiopathology, Penetrance, Reproducibility of Results, Sex Characteristics, Young Adult
الوصول الحر: https://gup.ub.gu.se/publication/119014Test
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المؤلفون: Everett, K. V., Chioza, B., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dulac, O., Eeg-Olofsson, O., Feucht, M., Friis, M., Goutieres, F., Guerrini, R., Heils, A., Kjeldsen, M., Lehesjoki, A. E., Makoff, A., Nabbout, R., Olsson, Ingrid, 1948, Sander, T., Siren, A., McKeigue, P., Robinson, R., Taske, N., Rees, M., Gardiner, M.
المصدر: Eur J Hum Genet. 15(4):463-72
مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Calcium Channels/*genetics, Calcium Channels, T-Type/*genetics, *Chromosome Mapping, Chromosomes, Human, Pair 16/*genetics, Epilepsy, Absence/*genetics, Female, Genetic Markers/genetics, *Genetic Predisposition to Disease, Humans, Linkage Disequilibrium/*genetics, Male, Microsatellite Repeats/genetics, Pedigree, Polymorphism, Single Nucleotide, Seizures
الوصول الحر: https://gup.ub.gu.se/publication/57042Test
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المؤلفون: Gustavsson, Peter, Schoumans, Jacqueline, Staaf, Johan, Borg, Åke, Nordenskjöld, Magnus, Annerén, Göran
المصدر: European Journal of Medical Genetics. 50(3):237-241
مصطلحات موضوعية: Child, Chromosome Aberrations, Chromosomes, Human, Pair 16/*genetics, Female, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Mental Retardation/genetics, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, Phenotype, Spinal Dysraphism/*genetics, MEDICINE, MEDICIN
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-13683Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=17387046&dopt=CitationTest -
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المؤلفون: Nyström, A-M, Bondeson, M-L, Skanke, N, Mårtensson, J, Strömberg, B, Gustafsson, J, Annerén, G
المصدر: J Clin Endocrinol Metab. 89(1):227-31
مصطلحات موضوعية: Adult, Aged, Child, Chromosomes, Human, Pair 12, Pair 16, Pair 4, Codon, Nonsense/*genetics, Exons, Female, Humans, Linkage (Genetics), Male, Middle Aged, Pedigree, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Pseudohypoaldosteronism/*genetics, Receptors, Mineralocorticoid/*genetics, Research Support, Non-U.S. Gov't, Sequence Analysis, DNA, Sweden, NATURAL SCIENCES, Biology, Cell and molecular biology, Genetics, NATURVETENSKAP, Biologi, Cell- och molekylärbiologi, Genetik
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-73144Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=14715854&dopt=CitationTest -
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المؤلفون: Adeyinka, Adewale, Baldetorp, Bo, Mertens, Fredrik, Olsson, Håkan, Johannsson, Oskar, Heim, Sverre, Pandis, Nikos
المصدر: Cancer Genetics and Cytogenetics. 147(1):62-67
مصطلحات موضوعية: Breast Neoplasms, Carcinoma, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 16, Pair 20, Cytogenetic Analysis, Diploidy, Female, Flow Cytometry, Humans, Karyotyping, Ploidies, S Phase, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics, Klinisk medicin, Cancer och onkologi, Clinical Medicine, Cancer and Oncology
الوصول الحر: https://lup.lub.lu.se/record/296557Test
http://dx.doi.org/10.1016/S0165-4608Test(03)00190-0 -
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المؤلفون: Dina, Christian, Meyre, David, Gallina, Sophie, Durand, Emmanuelle, Körner, Antje, Jacobson, Peter, 1962, Carlsson, Lena M S, 1957, Kiess, Wieland, Vatin, Vincent, Lecoeur, Cecile, Delplanque, Jérome, Vaillant, Emmanuel, Pattou, François, Ruiz, Juan, Weill, Jacques, Levy-Marchal, Claire, Horber, Fritz, Potoczna, Natascha, Hercberg, Serge, Le Stunff, Catherine, Bougnères, Pierre, Kovacs, Peter, Marre, Michel, Balkau, Beverley, Cauchi, Stéphane, Chèvre, Jean-Claude, Froguel, Philippe
المصدر: Nature genetics. 39(6):724-6
مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Adiposity, Adult, Age of Onset, Body Composition, Body Mass Index, Case-Control Studies, Child, Chromosomes, Human, Pair 16, genetics, Cohort Studies, Europe, Female, Genetic Predisposition to Disease, Humans, Introns, Male, Middle Aged, Obesity, Polymorphism, Single Nucleotide, Variation (Genetics)
الوصول الحر: https://gup.ub.gu.se/publication/58295Test
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المؤلفون: Konyukh, Marina, Delorme, Richard, Chaste, Pauline, Leblond, Claire, Lemière, Nathalie, Nygren, Gudrun, 1957, Anckarsäter, Henrik, 1966, Råstam, Maria, 1948, Ståhlberg, Ola, Amsellem, Frederique, Gillberg, I Carina, 1949, Mouren-Simeoni, Marie Christine, Herbrecht, Evelyn, Fauchereau, Fabien, Toro, Roberto, Gillberg, Christopher, 1950, Leboyer, Marion, Bourgeron, Thomas
المصدر: PLoS One. 6(3)
مصطلحات موضوعية: Psychiatry, Psykiatri, Case-Control Studies, Child, Child Development Disorders, Pervasive, Genetics, Chromosomes, Human, Pair 16, Female, Genetic Association Studies, Genetic Variation, Population, Genome, Humans, Male, Membrane Proteins, Pedigree
الوصول الحر: https://gup.ub.gu.se/publication/143214Test