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Articles in Volume 1 | Editorial
Welcome to PathoGenetics
Andrea Ballabio, Stylianos Antonarakis
PathoGenetics 2008, 1:1 (3 November 2008)
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Research
Smad4 haploinsufficiency: a matter of dosage
Paola Alberici, Claudia Gaspar, Patrick Franken, Marcin M Gorski, Ingrid de Vries, Rodney J Scott, Ari Ristimäki, Lauri A Aaltonen, Riccardo Fodde
PathoGenetics 2008, 1:2 (3 November 2008)
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Methodology
High-efficiency Rosa26 knock-in vector construction for Cre-regulated overexpression and RNAi
Peter Hohenstein, Joan Slight, Derya Deniz Ozdemir, Sally F Burn, Rachel Berry, Nicholas D Hastie
PathoGenetics 2008, 1:3 (3 November 2008)
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Review
Mechanisms for human genomic rearrangements
Wenli Gu, Feng Zhang, James R Lupski
PathoGenetics 2008, 1:4 (3 November 2008)
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Research
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines
Emanuele Panza, Monica Marini, Alessandro Pecci, Francesca Giacopelli, Valeria Bozzi, Marco Seri, Carlo Balduini, Roberto Ravazzolo
PathoGenetics 2008, 1:5 (1 December 2008)
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Research
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts
Monica Cardone, Caterina Porto, Antonietta Tarallo, Mariella Vicinanza, Barbara Rossi, Elena Polishchuk, Francesca Donaudy, Generoso Andria, Maria Antonietta De Matteis, Giancarlo Parenti
PathoGenetics 2008, 1:6 (1 December 2008)
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