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Wyświetlanie 1-20 z 575
Tytuł:
Transposable element insertions in 1000 Swedish individuals.
Autorzy:
Bilgrav Saether K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Thonberg H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Ameur A; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
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Źródło:
PloS one [PLoS One] 2023 Jul 28; Vol. 18 (7), pp. e0289346. Date of Electronic Publication: 2023 Jul 28 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
DNA Transposable Elements*/genetics
Rare Diseases*/genetics
Humans ; Mutagenesis, Insertional ; Sweden ; Genomics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease
Autorzy:
Sims, R.
van der Lee, S.J.
Naj, A.C.
Bellenguez, C.
Badarinarayan, N.
Jakobsdottir, J.
Kunkle, B.W.
Boland, A.
Raybould, R.
Bis, J.C.
Martin, E.R.
Grenier-Boley, B.
Heilmann-Heimbach, S.
Chouraki, V.
Kuzma, A.B.
Sleegers, K.
Vronskaya, M.
Ruiz, A.
Graham, R.R.
Olaso, R.
Hoffmann, P.
Grove, M.L.
Vardarajan, B.N.
Hiltunen, M.
Nöthen, M.M.
White, C.C.
Hamilton-Nelson, K.L.
Epelbaum, J.
Maier, W.
Choi, S.H.
Beecham, G.W.
Dulary, C.
Herms, S.
Smith, A.V.
Funk, C.C.
Derbois
Forstner, A.J.
Ahmad, S.
Li, H.
Bacq, D.
Harold, D.
Satizabal, C.L.
Valladares, O.
Squassina, A.
Thomas, R.
Brody, J.A.
Qu, L.
Sánchez-Juan, P.
Morgan, T.
Wolters, F.J.
Zhao, Y.
Garcia, F.S.
Denning, N.
Fornage, M.
Malamon, J.
Naranjo, M.C.D.
Majounie, E.
Mosley, T.H.
Dombroski, B.
Wallon, D.
Lupton, M.K.
Dupuis, J.
Whitehead, P.
Fratiglioni, L.
Medway, C.
Jian, X.
Mukherjee, S.
Keller, L.
Brown, K.
Lin, H.
Cantwell, L.B.
Panza, F.
McGuinness, B.
Moreno-Grau, S.
Burgess, J.D.
Solfrizzi, V.
Proitsi, P.
Adams, H.H.
Allen, M.
Seripa, D.
Pastor, P.
Cupples, L.A.
Price, N.D.
Hannequin, D.
Frank-García, A.
Levy, D.
Chakrabarty, P.
Caffarra, P.
Giegling, I.
Beiser, A.S.
Giedraitis, V.
Hampel, H.
Garcia, M.E.
Wang, X.
Lannfelt, L.
Mecocci, P.
Eiriksdottir, G.
Crane, P.K.
Pasquier, F.
Boccardi, V.
Henández, I.
Barber, R.C.
Scherer, M.
Tarraga, L.
Adams, P.M.
Leber, M.
Chen, Y.
Albert, M.S.
Riedel-Heller, S.
Emilsson, V.
Beekly, D.
Braae, A.
Schmidt, R.
Blacker, D.
Masullo, C.
Schmidt, H.
Doody, R.S.
Spalletta, G.
Longstreth, W.T., Jr.
Fairchild, T.J.
Bossù, P.
Lopez, O.L.
Frosch, M.P.
Sacchinelli, E.
Ghetti, B.
Yang, Q.
Huebinger, R.M.
Jessen, F.
Li, S.
Kamboh, M.I.
Morris, J.
Sotolongo-Grau, O.
Katz, M.J.
Corcoran, C.
Dunstan, M.
Braddel, A.
Thomas, C.
Meggy, A.
Marshall, R.
Gerrish, A.
Chapman, J.
Aguilar, M.
Taylor, S.
Hill, M.
Fairén, M.D.
Hodges, A.
Vellas, B.
Soininen, H.
Kloszewska, I.
Daniilidou, M.
Uphill, J.
Patel, Y.
Hughes, J.T.
Lord, J.
Turton, J.
Hartmann, A.M.
Cecchetti, R.
Fenoglio, C.
Serpente, M.
Arcaro, M.
Caltagirone, C.
Orfei, M.D.
Ciaramella, A.
Pichler, S.
Mayhaus, M.
Gu, W.
Lleó, A.
Fortea, J.
Blesa, R.
Barber, I.S.
Brookes, K.
Cupidi, C.
Maletta, R.G.
Carrell, D.
Sorbi, S.
Moebus, S.
Urbano, M.
Pilotto, A.
Kornhuber, J.
Bosco, P.
Todd, S.
Craig, D.
Johnston, J.
Gill, M.
Lawlor, B.
Lynch, A.
Fox, N.C.
Hardy, J.
Albin, R.L.
Apostolova, L.G.
Arnold, S.E.
Asthana, S.
Atwood, C.S.
Baldwin, C.T.
Barnes, L.L.
Barral, S.
Beach, T.G.
Becker, J.T.
Bigio, E.H.
Bird, T.D.
Boeve, B.F.
Bowen, J.D.
Boxer, A.
Burke, J.R.
Burns, J.M.
Buxbaum, J.D.
Cairns, N.J.
Cao, C.
Carlson, C.S.
Carlsson, C.M.
Carney, R.M.
Carrasquillo, M.M.
Carroll, S.L.
Diaz, C.C.
Chui, H.C.
Clark, D.G.
Cribbs, D.H.
Crocco, E.A.
DeCarli, C.
Dick, M.
Duara, R.
Evans, D.A.
Faber, K.M.
Fallon, K.B.
Fardo, D.W.
Farlow, M.R.
Ferris, S.
Foroud, T.M.
Galasko, D.R.
Gearing, M.
Geschwind, D.H.
Gilbert, J.R.
Graff-Radford, N.R.
Green, R.C.
Growdon, J.H.
Hamilton, R.L.
Harrell, L.E.
Honig, L.S.
Huentelman, M.J.
Hulette, C.M.
Hyman, B.T.
Jarvik, G.P.
Abner, E.
Jin, L.W.
Jun, G.
Karydas, A.
Kaye, J.A.
Kim, R.
Kowall, N.W.
Kramer, J.H.
LaFerla, F.M.
Lah, J.J.
Leverenz, J.B.
Levey, A.I.
Li, G.
Lieberman, A.P.
Lunetta, K.L.
Lyketsos, C.G.
Marson, D.C.
Martiniuk, F.
Mash, D.C.
Masliah, E.
McCormick, W.C.
McCurry, S.M.
McDavid, A.N.
McKee, A.C.
Mesulam, M.
Miller, B.L.
Miller, C.A.
Miller, J.W.
Morris, J.C.
Murrell, J.R.
Myers, A.J.
O'Bryant, S.
Olichney, J.M.
Pankratz, V.S.
Parisi, J.E.
Paulson, H.L.
Perry, W.
Peskind, E.
Pierce, A.
Poon, W.W.
Potter, H.
Quinn, J.F.
Raj, A.
Raskind, M.
Reisberg, B.
Reitz, C.
Ringman, J.M.
Roberson, E.D.
Rogaeva, E.
Rosen, H.J.
Rosenberg, R.N.
Sager, M.A.
Saykin, A.J.
Schneider, J.A.
Schneider, L.S.
Seeley, W.W.
Smith, A.G.
Sonnen, J.A.
Spina, S.
Stern, R.A.
Swerdlow, R.H.
Tanzi, R.E.
Thornton-Wells, T.A.
Trojanowski, J.Q.
Troncoso, J.C.
Van Deerlin, V.M.
Van Eldik, L.J.
Vinters, H.V.
Vonsattel, J.P.
Weintraub, S.
Welsh-Bohmer, K.A.
Wilhelmsen, K.C.
Williamson, J.
Wingo, T.S.
Woltjer, R.L.
Wright, C.B.
Yu, C.E.
Yu, L.
Garzia, F.
Golamaully, F.
Septier, G.
Engelborghs, S.
Vandenberghe, R.
De Deyn, P.P.
Fernadez, C.M.
Benito, Y.A.
Thonberg, H.
Forsell, C.
Lilius, L.
Kinhult-Stählbom, A.
Kilander, L.
Brundin, R.
Concari, L.
Helisalmi, S.
Koivisto, A.M.
Haapasalo, A.
Dermecourt, V.
Fievet, N.
Hanon, O.
Dufouil, C.
Brice, A.
Ritchie, K.
Dubois, B.
Himali, J.J.
Keene, C.D.
Tschanz, J.
Fitzpatrick, A.L.
Kukull, W.A.
Norton, M.
Aspelund, T.
Larson, E.B.
Munger, R.
Rotter, J.I.
Lipton, R.B.
Bullido, M.J.
Hofman, A.
Montine, T.J.
Coto, E.
Boerwinkle, E.
Petersen, R.C.
Alvarez, V.
Rivadeneira, F.
Reiman, E.M.
Gallo, M.
O'Donnell, C.J.
Reisch, J.S.
Bruni, A.C.
Royall, D.R.
Dichgans, M.
Sano, M.
Galimberti, D.
St George-Hyslop, P.
Scarpini, E.
Tsuang, D.W.
Mancuso, M.
Bonuccelli, U.
Winslow, A.R.
Daniele, A.
Wu, C.K.
Peters, O.
Nacmias, B.
Riemenschneider, M.
Heun, R.
Brayne, C.
Rubinsztein, D.C.
Bras, J.
Guerreiro, R.
Al-Chalabi, A.
Shaw, C.E.
Collinge, J.
Mann, D.
Tsolaki, M.
Clarimón, J.
Sussams, R.
Lovestone, S.
O'Donovan, M.C.
Owen, M.J.
Behrens, T.W.
Mead, S.
Goate, A.M.
Uitterlinden, A.G.
Holmes, C.
Cruchaga, C.
Ingelsson, M.
Bennett, D.A.
Powell, J.
Golde, T.E.
Graff, C.
De Jager, P.L.
Morgan, K.
Ertekin-Taner, N.
Combarros, O.
Psaty, B.M.
Passmore, P.
Younkin, S.G.
Berr, C.
Gudnason, V.
Rujescu, D.
Dickson, D.W.
Dartigues, J.F.
DeStefano, A.L.
Ortega-Cubero, S.
Hakonarson, H.
Campion, D.
Boada, M.
Kauwe, J.K.
Farrer, L.A.
Van Broeckhoven, C.
Ikram, M.A.
Jones, L.
Haines, J.L.
Tzourio, C.
Launer, L.J.
Escott-Price, V.
Mayeux, R.
Deleuze, J.F.
Amin, N.
Holmans, P.A.
Pericak-Vance, M.A.
Amouyel, P.
van Duijn, C.M.
Ramirez, A.
Wang, L.S.
Lambert, J.C.
Seshadri, S.
Williams, J.
Schellenberg, G.D.
Peloso, Gina M.
van der Lee, Sven J.
Destefano, Anita L.
Seshardi, Sudha
Pokaż więcej
Źródło:
In Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 2018 10:595-598
Czasopismo naukowe
Szczegóły
Tytuł:
Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
Autorzy:
Wallander K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. .; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. .
Thonberg H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Pokaż więcej
Źródło:
Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2021 Nov 16; Vol. 19 (1), pp. 47. Date of Electronic Publication: 2021 Nov 16.
Typ publikacji:
Published Erratum
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
Autorzy:
Wallander K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. .; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. .
Thonberg H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Pokaż więcej
Źródło:
Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2021 Oct 28; Vol. 19 (1), pp. 46. Date of Electronic Publication: 2021 Oct 28.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Autorzy:
Stranneheim H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Magnusson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lesko N; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Engvall M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Arnell H; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Johansson CB; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Barbaro M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Björck E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Bruhn H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Freyer C; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Gustavsson P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Hellström-Pigg M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Iwarsson E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Jemt A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Laaksonen M; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institutet of Technology, Stockholm, Sweden.
Enoksson SL; Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.
Malmgren H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Oscarson M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Rasi C; Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Rosenbaum A; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institutet of Technology, Stockholm, Sweden.
Sahlin E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Sardh E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Stödberg T; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Tesi B; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Thonberg H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Töhönen V; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
von Döbeln U; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Vassiliou D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Vonlanthen S; Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.
Wikström AC; Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.
Wincent J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Winqvist O; Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.
Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Ygberg S; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Zetterström RH; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Marits P; Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.
Soller MJ; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Wirta V; Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institutet of Technology, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. .; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. .
Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. .; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden. .; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. .
Pokaż więcej
Źródło:
Genome medicine [Genome Med] 2021 Mar 17; Vol. 13 (1), pp. 40. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Delivery of Health Care*
Whole Genome Sequencing*
Rare Diseases/*diagnosis
Rare Diseases/*genetics
Cohort Studies ; DNA Copy Number Variations/genetics ; Genetic Heterogeneity ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Information Dissemination ; Inheritance Patterns/genetics ; Microsatellite Repeats/genetics ; Mutation/genetics ; Sweden ; Uniparental Disomy/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 575

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