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CDH1 germline mutations in a Chinese cohort with hereditary diffuse gastric cancerPan, Zhiwen ; Fu, Zhixuan ; Luo, Cong ; Bao, Yejiang ; Wang, Mingli ; Cao, Wenming ; Xu, XiaohongJournal of cancer research and clinical oncology, 2022-08, Vol.148 (8), p.2145-2151 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Characterization of clinicopathological features, treatment practices, and outcomes among Finnish advanced breast cancer patients in real-life clinical practiceHeinolainen, Krista ; Saarinen, Silva ; Vertuani, Simona ; Ellonen, Antti ; Karlsson, Antti ; Utriainen, Meri ; Carlqvist, Peter ; Mandelin, Jami ; Holm, BarbroJournal of cancer research and clinical oncology, 2023-09, Vol.149 (11), p.9139-9149 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuumBartoletti-Stella, Anna ; Vacchiano, Veria ; De Pasqua, Silvia ; Mengozzi, Giacomo ; De Biase, Dario ; Bartolomei, Ilaria ; Avoni, Patrizia ; Rizzo, Giovanni ; Parchi, Piero ; Donadio, Vincenzo ; Chiò, Adriano ; Pession, Annalisa ; Oppi, Federico ; Salvi, Fabrizio ; Liguori, Rocco ; Capellari, SabinaJournal of neurology, 2021-10, Vol.268 (10), p.3766-3776 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Mutations for the peopleKristensen, Vessela ; Borresen‐Dale, Anne‐LiseEMBO molecular medicine, 2010-05, Vol.2 (5), p.143-145 [Periódico revisado por pares]Weinheim: WILEY‐VCH VerlagTexto completo disponível |
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Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutationsYu, Xiaoyu ; Lin, Yun ; Xu, Jun ; Che, Tuanjie ; Li, Lin ; Yang, Tao ; Wu, HaoOrphanet journal of rare diseases, 2020-01, Vol.15 (1), p.29-29, Article 29 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle EastRomdhane, Lilia ; Kefi, Rym ; Azaiez, Hela ; Ben Halim, Nizar ; Dellagi, Koussay ; Abdelhak, SoniaOrphanet journal of rare diseases, 2012-08, Vol.7 (1), p.52-52, Article 52 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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MYCN and MAX alterations in Wilms tumor and identification of novel N-MYC interaction partners as biomarker candidatesJiménez Martín, Ovidio ; Schlosser, Andreas ; Furtwängler, Rhoikos ; Wegert, Jenny ; Gessler, ManfredCancer cell international, 2021-10, Vol.21 (1), p.1-555, Article 555 [Periódico revisado por pares]London: BioMed CentralTexto completo disponível |
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A simple and cost-effective method for screening of CRISPR/Cas9-induced homozygous/biallelic mutantsGuo, Jinggong ; Li, Kun ; Jin, Lifeng ; Xu, Rui ; Miao, Kaiting ; Yang, Fengbo ; Qi, Chaoya ; Zhang, Lin ; Botella, Jose R ; Wang, Ran ; Miao, YuchenPlant methods, 2018-05, Vol.14 (1), p.40-40, Article 40 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Rapid and Cheap Methodology for CRISPR/Cas9 Zebrafish Mutant ScreeningD’Agostino, Ylenia ; Locascio, Annamaria ; Ristoratore, Filomena ; Sordino, Paolo ; Spagnuolo, Antonietta ; Borra, Marco ; D’Aniello, SalvatoreMolecular biotechnology, 2016-01, Vol.58 (1), p.73-78 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohortCarvalho, Simone da Costa E Silva ; Grangeiro, Carlos Henrique Paiva ; Picanço-Albuquerque, Clarissa Gondim ; Dos Anjos, Thaís Oliveira ; De Molfetta, Greice Andreotti ; Silva, Jr, Wilson Araujo ; Ferraz, Victor Evangelista de FariaBMC research notes, 2018-08, Vol.11 (1), p.546-546, Article 546 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |