检索结果 - Pablo Javier Azurmendi
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1
Mutations in SEC63 cause autosomal dominant polycystic liver disease 由 Sonia Dávila, Laszlo Furu, Ali G. Gharavi, Xin Tian, Tamehito Onoe, Qi Qian, Airong Li, Yiqiang Cai, Patrick S. Kamath, Bernard F. King, Pablo Javier Azurmendi, Pia Tahvanainen, Helena Kääriäinen, Krister Höckerstedt, Olivier Devuyst, Yves Pirson, Rodolfo S. Martín, Richard P. Lifton, Esa Tahvanainen, Vicente E. Torres, Stefan Somlo
出版 2004Artigo -
2
Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease 由 Carolina Dalmasso, Luis Ignacio Brusco, Natividad Olivar, Carolina Muchnik, Claudia Hanses, Esther Milz, Julian Becker, Stefanie Heilmann‐Heimbach, Per Hoffmann, Federico Ariel Prestia, Pablo Galeano, Mariana Soledad Sanchez Avalos, Luis Eduardo Martínez, Mariana Estela Carulla, Pablo Javier Azurmendi, Cynthia Liberczuk, Cristina Fezza, Marcelo Sampaño, Maria Fierens, Guillermo Jemar, Patricia Solís, Nancy Medel, Julieta Lisso, Zulma Sevillano, Paolo Bosco, Paola Bossù, Gianfranco Spalletta, Daniela Galimberti, Michelangelo Mancuso, Benedetta Nacmias, Sandro Sorbi, Patrizia Mecocci, Alberto Pilotto, Paolo Caffarra, Francesco Panza, María J. Bullido, Jordi Clarimón, Pascual Sánchez‐Juan, Eliécer Coto, Florentino Sánchez-García, Caroline Graff, Martin Ingelsson, Céline Bellenguez, Eduardo M. Castaño, Claudia Kairiyama, Daniel Gustavo Politis, Silvia Kochen, Horacio Scaro, Wolfgang Maier, Frank Jessen, Carlos A. Mangone, Jean‐Charles Lambert, Laura Morelli, Alfredo Ramı́rez
出版 2019Revisão
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Biology
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Endoplasmic reticulum
Environmental health
Founder effect
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Genome-wide association study
Genotype
Genotyping
Golgi apparatus
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Polycystic liver disease
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Protein subunit
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Single-nucleotide polymorphism