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收藏CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-relatedCAPN3 c.1746-20C>G变体对于LGMD R1钙蛋白酶3相关的
Mroczek, Magdalena; Inashkina, Inna; Stavusis, Janis; Zayakin, Pawel; Khrunin, Andrey; Micule, Ieva; Kenina, Victorija; Zdanovica, Anna; Zidkova, Jana; Fajkusova, Lenka; Limborska, Svetlana; van der Kooi, Anneke J.; Brusse, Esther; Leonardis, Lea; Maver, Ales; Pajusalu, Sander; Ounap, Katrin; Puusepp, Sanna; Dobosz, Paula; Sypniewski, Mateusz; Burnyte, Birute; Lace, Baiba
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收藏Genome-wide sequence analyses of ethnic populations across Russia
Zhernakova, Daria V.; Brukhin, Vladimir; Malov, Sergey; Oleksyk, Taras K.; Koepfli, Klaus Peter; Zhuk, Anna; Dobrynin, Pavel; Kliver, Sergei; Cherkasov, Nikolay; Tamazian, Gaik; Rotkevich, Mikhail; Krasheninnikova, Ksenia; Evsyukov, Igor; Sidorov, Sviatoslav; Gorbunova, Anna; Chernyaeva, Ekaterina; Shevchenko, Andrey; Kolchanova, Sofia; Komissarov, Alexei; Simonov, Serguei; Antonik, Alexey; Logachev, Anton; Polev, Dmitrii E.; Pavlova, Olga A.; Glotov, Andrey S.; Ulantsev, Vladimir; Noskova, Ekaterina; Davydova, Tatyana K.; Sivtseva, Tatyana M.; Limborska, Svetlana; Balanovsky, Oleg; Osakovsky, Vladimir; Novozhilov, Alexey; Puzyrev, Valery; O'Brien, Stephen J.
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收藏Genome-wide transcriptome analysis using RNA-Seq reveals a large number of differentially expressed genes in a transient MCAO rat model
Dergunova, Lyudmila, V; Filippenkov, Ivan B.; Staychansiry, Vasily V.; Denisova, Alina E.; Yuzhakov, Vadim V.; Mozerov, Sergey A.; Gubsky, Leonid, V; Limborska, Svetlana A.
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收藏Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity在更广泛的欧洲遗传多样性背景下,意大利东北部人口分离株的遗传特征
Esko, Tonu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Debniak, Tadeusz; Jakkula, Eveliina; Julia, Antonio; Karachanak, Sena; Khrunin, Andrey; Kisfali, Peter; Krulisova, Veronika; Kucinskiene, Zita Ausrele; Rehnstroem, Karola; Traglia, Michela; Nikitina-Zake, Liene; Zimprich, Fritz; Antonarakis, Stylianos E.; Estivill, Xavier; Glavac, Damjan; Gut, Ivo; Klovins, Janis; Krawczak, Michael; Kucinskas, Vaidutis; Lathrop, Mark; Macek, Milan; Marsal, Sara; Meitinger, Thomas; Melegh, Bela; Limborska, Svetlana; Lubinski, Jan; Paolotie, Aarno; Schreiber, Stefan; Toncheva, Draga; Toniolo, Daniela; Wichmann, H-Erich; Zimprich, Alexander; Metspalu, Mait; Gasparini, Paolo; Metspalu, Andres; D'Adamo, Pio
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收藏Apolipoprotein B 3′-VNTR polymorphism in Eastern European populations
Verbenko, DA; Pogoda, TV; Spitsyn, VA; Mikulich, AI; Bets, LV; Bebyakova, NA; Ivanov, VP; Abolmasov, NN; Pocheshkhova, EA; Balanovskaya, EV; Tarskaya, LA; Sorensen, MV; Limborska, SA
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收藏Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism
Illarioshkin, SN; Periquet, M; Rawal, N; Lücking, CB; Zagorovskaya, TB; Slominsky, PA; Miloserdova, OV; Markova, ED; Limborska, SA; Ivanova-Smolenskaya, IA; Brice, A
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收藏Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations
Popova, SN; Slominsky, PA; Pocheshnova, EA; Balanovskaya, EV; Tarskaya, LA; Bebyakova, NA; Bets, LV; Ivanov, VP; Livshits, LA; Khusnutdinova, EK; Spitcyn, VA; Limborska, SA
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收藏De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia
Klein, C; Brin, MF; de Leon, D; Limborska, SA; Ivanova-Smolenskaya, IA; Bressman, SB; Friedman, A; Markova, ED; Risch, NJ; Breakefield, XO; Ozelius, LJ
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