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Human Molecular Genetics|March 4, 2016
Shorter telomere length in Europeans than in Africans due to polygenetic adaptationMatthew E B Hansen, Steven C Hunt, Rivka C Stone, et al.
Science (New York, N.Y.)|October 5, 2023
PIM1 controls GBP1 activity to limit self-damage and to guard against pathogen infectionDaniel Fisch, Moritz M Pfleiderer, Eleni Anastasakou, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophreniaNiklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, et al.
The Medical Journal of Australia|October 25, 2022
The 2022 report of the MJA-Lancet Countdown on health and climate change: Australia unprepared and paying the pricePaul J Beggs, Ying Zhang, Alice McGushin, et al.
Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.
British Journal of Haematology|September 24, 2004
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutationsHanna T Gazda, Rong Zhong, Lilia Long, et al.
Neurology|August 27, 2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathyOzge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, et al.
Cell|September 10, 2021
Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across speciesMohammadsharif Tabebordbar, Kim A Lagerborg, Alexandra Stanton, et al.
The Medical Journal of Australia|December 7, 2018
The MJA-Lancet Countdown on health and climate change: Australian policy inaction threatens livesYing Zhang, Paul J Beggs, Hilary Bambrick, et al.
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