検索結果 - Diego Balboa
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A complex genomic locus drives mtDNA replicase POLG expression to its disease‐related nervous system regions 著者: Joni Nikkanen, Juan Cruz Landoni, Diego Balboa, Maarja Haugas, Juha Partanen, Anders Paetau, Pirjo Isohanni, Virginia Brilhante, Anu Suomalainen
出版年 EMBO Molecular Medicine (2017-11-01)全文の入手
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Kaposi’s Sarcoma-Associated Herpesvirus Reactivation by Targeting of a dCas9-Based Transcription Activator to the ORF50 Promoter 著者: Endrit Elbasani, Francesca Falasco, Silvia Gramolelli, Veijo Nurminen, Thomas Günther, Jere Weltner, Diego Balboa, Adam Grundhoff, Timo Otonkoski, Päivi M. Ojala
出版年 Viruses (2020-08-01)全文の入手
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Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells 著者: Carina Lund, Venkatram Yellapragada, Sanna Vuoristo, Diego Balboa, Sara Trova, Cecile Allet, Nazli Eskici, Kristiina Pulli, Paolo Giacobini, Timo Tuuri, Taneli Raivio
出版年 Disease Models & Mechanisms (2020-03-01)全文の入手
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Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes 著者: Diego Balboa, Jonna Saarimäki-Vire, Daniel Borshagovski, Mantas Survila, Päivi Lindholm, Emilia Galli, Solja Eurola, Jarkko Ustinov, Heli Grym, Hanna Huopio, Juha Partanen, Kirmo Wartiovaara, Timo Otonkoski
出版年 eLife (2018-11-01)全文の入手
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The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans 著者: Minna Ampuja, Sabina Ericsson, Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman, Martin Broberg, Amanda Ramste, Diego Balboa, Tiina Ojala, Jessica X. Chong, Michael J. Bamshad, James R. Priest, Markku Varjosalo, Riikka Kivelä, Emmi Helle
出版年 HGG Advances (2025-07-01)全文の入手
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Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation 著者: Taru Hilander, Ryan Awadhpersad, Geoffray Monteuuis, Krystyna L. Broda, Max Pohjanpelto, Elizabeth Pyman, Sachin Kumar Singh, Tuula A. Nyman, Isabelle Crevel, Robert W. Taylor, Ann Saada, Diego Balboa, Brendan J. Battersby, Christopher B. Jackson, Christopher J. Carroll
出版年 iScience (2024-07-01)全文の入手
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