Ngā hua rapu - Bernabé I. Bustos
- E whakaatu ana i te 1 - 9 hua o te 9
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Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies mā Eduardo Pérez‐Palma, Bernabé I. Bustos, Camilo Villamán, Marcelo Alarcón, Miguel E. Ávila, Giorgia D. Ugarte, Ariel E. Reyes, Carlos Opazo, G. Ferrari
I whakaputaina 2014Revisão -
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Assessing the relationship between monoallelic <i>PRKN</i> mutations and Parkinson’s risk mā Steven Lubbe, Bernabé I. Bustos, Jing Hu, Dimitri Krainc, Theresita Joseph, Jason Hehir, Manuela Tan, Weijia Zhang, Valentina Escott‐Price, Nigel Williams, Cornelis Blauwendraat, Andrew Singleton, Huw R. Morris
I whakaputaina 2021Artigo -
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Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls mā Dina Simkin, Vasileios Papakis, Bernabé I. Bustos, Christina M. Ambrosi, Steven J. Ryan, Valeriya Baru, Luis A. Williams, Graham T. Dempsey, Owen B. McManus, John E. Landers, Steven Lubbe, Alfred L. George, Evangelos Kiskinis
I whakaputaina 2022Artigo -
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Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy mā Dina Simkin, Kelly A. Marshall, Carlos G. Vanoye, Reshma R. Desai, Bernabé I. Bustos, Brandon N Piyevsky, Juan A. Ortega, Marc P. Forrest, Gabriella L. Robertson, Peter Penzes, Linda Laux, Steven Lubbe, J Gordon Millichap, Alfred L. George, Evangelos Kiskinis
I whakaputaina 2021Artigo -
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Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry mā Bernabé I. Bustos, Eduardo Pérez‐Palma, Stephan Buch, Lorena Azócar, Eleodoro Riveras, Giorgia D. Ugarte, Mohammad R. Toliat, Peter Nürnberg, Wolfgang Lieb, André Franke, Sebastian Hinz, Greta Burmeister, Witigo von Schönfels, Clemens Schafmayer, Henry Völzke, Uwe Völker, Georg Homuth, Markus M. Lerch, José Luis Santos, Klaus Püschel, Claudia Bambs, Juan Carlos Roa, Rodrigo A. Gutiérrez, Jochen Hampe, G. Ferrari, Juan Francisco Miquel
I whakaputaina 2019Artigo -
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Mendelian Randomization Analysis of the Relationship Between Native American Ancestry and Gallbladder Cancer Risk mā Linda Zollner, Felix Boekstegers, Carol Barahona Ponce, Dominique Scherer, Katherine Marcelain, Valentina Gárate‐Calderón, Mélanie Waldenberger, Erik Morales, Armando Rojas, César Munoz, Bettina Müller, Javier Retamales, Gonzalo de Toro, Allan Vera Kortmann, Olga Barajas, María Teresa Rivera, Analía Cortés, Denisse Loader, Javiera Saavedra, Lorena Gutiérrez, Alejandro Beltr n Ortega, Maria Enriqueta Bertrán, Leonardo Bartolotti, Fernando Gabler, Mônica Rodrigues Campos, Juan Alvarado, Fabricio Moisán, M. Loreto Spencer, Bruno Nervi, Daniel Carvajal, H. Losada, Mauricio Almau, Plinio Fernández, Jordi Olloquequi, Alice R Carter, Juan Francisco Miquel, Bernabé I. Bustos, Macarena Fuentes‐Guajardo, Rolando González‐José, María Cátira Bortolini, Víctor Acuña-Alonzo, Carla Gallo, Andrés Ruiz‐Linares, Francisco Rothhammer, Justo Lorenzo Bermejo
I whakaputaina 2022Pré-impressão -
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Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers mā Linda Zollner, Felix Boekstegers, Carol Barahona Ponce, Dominique Scherer, Katherine Marcelain, Valentina Gárate‐Calderón, Mélanie Waldenberger, Erik Morales, Armando Rojas, César Munoz, Javier Retamales, Gonzalo de Toro, Allan Vera Kortmann, Olga Barajas, María Teresa Rivera, Analía Cortés, Denisse Loader, Javiera Saavedra, Lorena Gutiérrez, Alejandro Beltr n Ortega, Maria Enriqueta Bertrán, Leonardo Bartolotti, Fernando Gabler, Mónica Campos, Juan Alvarado, Fabricio Moisán, M. Loreto Spencer, Bruno Nervi, Daniel Carvajal, H. Losada Morales, Mauricio Almau, Plinio Fernández, Jordi Olloquequi, Alice R Carter, Juan Francisco Miquel, Bernabé I. Bustos, Macarena Fuentes‐Guajardo, Rolando González‐José, María Cátira Bortolini, Víctor Acuña-Alonzo, Carla Gallo, Andrés Ruiz‐Linares, Francisco Rothhammer, Justo Lorenzo Bermejo
I whakaputaina 2023Artigo -
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Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities... mā Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann
I whakaputaina 2020Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Genetics
Gene
Medicine
Internal medicine
Disease
Genotype
Allele
Cancer
Computational biology
Gallbladder cancer
Genome-wide association study
Mutation
Neuroscience
Single-nucleotide polymorphism
Acoustics
Apolipoprotein E
Bioinformatics
Biomarker
Biophysics
CRISPR
Candidate gene
Cas9
Cell biology
Chemistry
Cohort
Compound heterozygosity
DNA methylation
Demography
Dystonia