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Material Type: Artigo
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Upregulated ECM genes and increased synaptic activity in Parkinson's human DA neurons with PINK1/ PRKN mutationsTripathi, Utkarsh ; Rosh, Idan ; Ben Ezer, Ran ; Nayak, Ritu ; Hussein, Yara ; Choudhary, Ashwani ; Djamus, Jose ; Manole, Andreea ; Houlden, Henry ; Gage, Fred H ; Stern, ShaniNPJ Parkinson's Disease, 2024-05, Vol.10 (1), p.103-103 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Unveiling the role of iPLA 2 β in neurodegeneration: From molecular mechanisms to advanced therapiesLiu, Jiabin ; Tan, Jieqiong ; Tang, Beisha ; Guo, JifengPharmacological research, 2024-04, Vol.202, p.107114 [Periódico revisado por pares]NetherlandsTexto completo disponível |
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Material Type: Artigo
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Abstract 49: A single centre experience on nodular adrenocortical cushings syndromeKumar, Kiran ; Pavithran, PraveenIndian journal of endocrinology and metabolism, 2022-12, Vol.26 (8), p.21-21 [Periódico revisado por pares]Pradesh: Wolters Kluwer India Pvt. LtdTexto completo disponível |
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Material Type: Artigo
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Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancerPloS one, 2017-05, Vol.12 (5), p.e0178275-e0178275 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Correction: A Novel Quantitative Hemolytic Assay Coupled with Restriction Fragment Length Polymorphisms Analysis Enabled Early Diagnosis of Atypical Hemolytic Uremic Syndrome and Identified Unique Predisposing Mutations in JapanYoshida, Yoko ; Miyata, Toshiyuki ; Matsumoto, Masanori ; Shirotani-Ikejima, Hiroko ; Uchida, Yumiko ; Ohyama, Yoshifumi ; Kokubo, Tetsuro ; Fujimura, YoshihiroPloS one, 2017-05, Vol.12 (5), p.e0178015-e0178015 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Genotype/Phenotype Correlation of Cases with PTPN11 Gene Mutation: Eastern Black Sea ExperienceAltıner, Şule ; Çebi, Alper Han ; Çelik, Said ; Gökcü, MehmetAnkara Ueniversitesi Tip Fakültesi mecmuasi, 2022-10, Vol.75 (3), p.368-372 [Periódico revisado por pares]Ankara: Galenos Publishing HouseTexto completo disponível |
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Material Type: Artigo
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The WNT1G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XVVollersen, Nele ; Zhao, Wenbo ; Rolvien, Tim ; Lange, Fabiola ; Schmidt, Felix Nikolai ; Sonntag, Stephan ; Shmerling, Doron ; von Kroge, Simon ; Stockhausen, Kilian Elia ; Sharaf, Ahmed ; Schweizer, Michaela ; Karsak, Meliha ; Busse, Björn ; Bockamp, Ernesto ; Semler, Oliver ; Amling, Michael ; Oheim, Ralf ; Schinke, Thorsten ; Yorgan, Timur AlexanderBone Research, 2021-11, Vol.9 (1), p.48-48, Article 48 [Periódico revisado por pares]London: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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Correction: A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital CataractZhu, Yanan ; Yu, Hao ; Wang, Wei ; Gong, Xiaohua ; Yao, KePloS one, 2015-05, Vol.10 (5), p.e0125949-e0125949 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Correction: Species-Specific Codon Context Rules Unveil Non-Neutrality Effects of Synonymous MutationsMoura, Gabriela R ; Pinheiro, Miguel ; Freitas, Adelaide ; Oliveira, José L ; Frommlet, Jörg C ; Carreto, Laura ; Soares, Ana R ; Bezerra, Ana R ; Santos, Manuel A SPloS one, 2015-12, Vol.10 (12), p.e0145593-e0145593 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Genome-wide DNA mutations in Arabidopsis plants after multigenerational exposure to high temperaturesLu, Zhaogeng ; Cui, Jiawen ; Wang, Li ; Teng, Nianjun ; Zhang, Shoudong ; Lam, Hon-Ming ; Zhu, Yingfang ; Xiao, Siwei ; Ke, Wensi ; Lin, Jinxing ; Xu, Chenwu ; Jin, BiaoGenome Biology, 2021-05, Vol.22 (1), p.160-160, Article 160 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |