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1 Ergebnisse
1
Clinical and molecular phenotype of Aicardi-Goutières syndr..:
Rice, Gillian
;
Patrick, Teresa
;
Parmar, Rekha
...
American Journal of Human Genetics. , 2007
Link:
http://hdl.handle.net/11449/69941
RT Journal T1
Clinical and molecular phenotype of Aicardi-Goutières syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftunivespir:oai:repositorio.unesp.br:11449_69941&Exemplar=1&LAN=DE A1 Rice, Gillian A1 Patrick, Teresa A1 Parmar, Rekha A1 Taylor, Claire F A1 Aeby, Alec A1 Aicardi, Jean A1 Artuch, Rafael A1 Montalto, Simon Attard A1 Bacino, Carlos A A1 Barroso, Bruno A1 Baxter, Peter A1 Benko, Willam S A1 Bergmann, Carsten A1 Bertini, Enrico A1 Biancheri, Roberta A1 Blair, Edward M A1 Blau, Nenad A1 Bonthron, David T A1 Briggs, Tracy A1 Brueton, Louise A A1 Brunner, Han G A1 Burke, Christopher J A1 Carr, Ian M A1 Carvalho, Daniel R A1 Chandler, Kate E A1 Christen, Hans-Jürgen A1 Corry, Peter C A1 Cowan, Frances M A1 Cox, Helen A1 D'Arrigo, Stefano A1 Dean, John A1 De Laet, Corinne A1 De Praeter, Claudine A1 Déry, Catherine A1 Ferrie, Colin D A1 Flintoff, Kim A1 Frints, Suzanna G. M A1 Garcia-Cazorla, Angels A1 Gener, Blanca A1 Goizet, Cyril A1 Goutières, Françoise A1 Green, Andrew J A1 Guët, Agnès A1 Hamel, Ben C. J A1 Hayward, Bruce E A1 Heiberg, Arvid A1 Hennekam, Raoul C A1 Husson, Marie A1 Jackson, Andrew P A1 Jayatunga, Rasieka A1 Jiang, Yong-Hui A1 Kant, Sarina G A1 Kao, Amy A1 King, Mary D A1 Kingston, Helen M A1 Klepper, Joerg A1 Van Der Knaap, Marjo S A1 Kornberg, Andrew J A1 Kotzot, Dieter A1 Kratzer, Wilfried A1 Lacombe, Didier A1 Lagae, Lieven A1 Landrieu, Pierre Georges A1 Lanzi, Giovanni A1 Leitch, Andrea A1 Lim, Ming J A1 Livingston, John H A1 Lourenco, Charles M A1 Lyall, E. G. Hermione A1 Lynch, Sally A A1 Lyons, Michael J A1 Marom, Daphna A1 McClure, John P A1 McWilliam, Robert A1 Melancon, Serge B A1 Mewasingh, Leena D A1 Moutard, Marie-Laure A1 Nischal, Ken K A1 Østergaard, John R A1 Prendiville, Julie A1 Rasmussen, Magnhild A1 Rogers, R. Curtis A1 Roland, Dominique A1 Rosser, Elisabeth M A1 Rostasy, Kevin A1 Roubertie, Agathe A1 Sanchis, Amparo A1 Schiffmann, Raphael A1 Scholl-Bürgi, Sabine A1 Seal, Sunita A1 Shalev, Stavit A A1 Corcoles, C. Sierra A1 Sinha, Gyan P A1 Soler, Doriette A1 Spiegel, Ronen A1 Stephenson, John B. P A1 Tacke, Uta A1 Tiong, Yang Tan A1 Till, Marianne A1 Tolmie, John L A1 Tomlin, Pam A1 Vagnarelli, Federica A1 Valente, Enza Maria A1 Van Coster, Rudy N. A A1 Van Der Aa, Nathalie A1 Vanderver, Adeline A1 Vles, Johannes S. H A1 Voit, Thomas A1 Wassmer, Evangeline A1 Weschke, Bernhard A1 Whiteford, Margo L A1 Willemsen, Michel A. A A1 Zankl, Andreas A1 Zuberi, Sameer M A1 Orcesi, Simona A1 Fazzi, Elisa A1 Lebon, Pierre A1 Crow, Yanick J YR 2007 K1 adolescent K1 Aicardi Goutieres syndrome K1 child K1 congenital infection K1 controlled study K1 gene frequency K1 gene identification K1 genetic screening K1 genotype K1 human K1 infant K1 major clinical study K1 missense mutation K1 mortality K1 mutator gene K1 nucleotide sequence K1 pedigree analysis K1 phenotype K1 priority journal K1 RNASEH2A gene K1 RNASEH2B gene K1 RNASEH2C gene K1 TREX1 gene K1 Adult K1 Basal Ganglia Diseases K1 Brain K1 Calcinosis K1 Chilblains K1 Preschool K1 DNA Mutational Analysis K1 Exodeoxyribonucleases K1 Female K1 Humans K1 Newborn K1 Lymphocytosis K1 Male K1 Molecular Sequence Data K1 Mutation K1 Phosphoproteins K1 Ribonuclease H K1 Calf Thymus K1 Syndrome JF American Journal of Human Genetics LK http://hdl.handle.net/11449/69941 DO http://hdl.handle.net/11449/69941 SF ELIB - SuUB Bremen
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