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1 Ergebnisse
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Biallelic mutations in the 3 ' exonuclease TOE1 cause ponto..:
Heckman, Laura Dean
;
Rosti, Rasim Ozgur
;
Dikoglu, Esra
...
794afd61-8a73-4521-9a7c-0388d3347c22. , 2017
Link:
https://doi.org/10.1038/ng.3762
RT Journal T1
Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
UL https://suche.suub.uni-bremen.de/peid=base-ftdokuzeylueluni:794afd61-8a73-4521-9a7c-0388d3347c22&Exemplar=1&LAN=DE A1 Heckman, Laura Dean A1 Rosti, Rasim Ozgur A1 Dikoglu, Esra A1 Gregor, Anne A1 Guemez-Gamboa, Alicia A1 Musaev, Damir A1 Eggens, Veerle R. C A1 Schaffer, Ashleigh E A1 Lardelli, Rea M A1 Akizu, Naiara A1 Scott, Eric A1 Silhavy, Jennifer L A1 Schlachetzki, Zinayida A1 Van Nostrand, Eric L A1 Sathe, Shashank A1 Grainger, Stephanie A1 Zaki, Maha S A1 Blaser, Susan A1 Bilguvar, Kaya A1 Per, Huseyin A1 Fagerberg, Christina A1 Christesen, Henrik T A1 Kibaek, Maria A1 Aldinger, Kimberly A A1 Manchester, David A1 Matsumoto, Naomichi A1 Muramatsu, Kazuhiro A1 Saitsu, Hirotomo A1 Shiina, Masaaki A1 Ogata, Kazuhiro A1 Dobyns, William B A1 Chi, Neil C A1 Traver, David A1 Spaccini, Luigina A1 Bova, Stefania Maria A1 Gabrie, Stacey B A1 Gunel, Murat A1 Valente, Enza Maria A1 Nassogne, Marie-Cecile A1 Bennett, Eric J A1 Yeo, Gene W A1 Baas, Frank A1 Lykke-Andersen, Jens A1 Gleeson, Joseph G A1 Davies, Justin H A1 Foulds, Nicola A1 Rosti, Basak A1 ÇAĞLAYAN, AHMET OKAY A1 Mande, Rohit A1 Widjaja, Ari A1 Shaw, Tim L A1 Markmiller, Sebastian A1 Marin-Valencia, Isaac A1 de Meirleir, Linda A1 Kayserili, Hulya A1 Altunoglu, Umut A1 Freckmann, Mary Louise A1 Warwick, Linda A1 Chitayat, David YR 2017 JF 794afd61-8a73-4521-9a7c-0388d3347c22 LK http://dx.doi.org/https://doi.org/10.1038/ng.3762 DO https://doi.org/10.1038/ng.3762 SF ELIB - SuUB Bremen
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