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Metodiev, Metodi D., Zahra Assouline, Pierre Landrieu, Dominique Chretien, Brigitte Bader-Meunier, Corinne Guitton, Arnold Munnich, a Agnès Rötig. "Unusual Clinical Expression and Long Survival of a Pseudouridylate Synthase (PUS1) Mutation Into Adulthood." Eur J Hum Genet 2015.

Metodiev, Metodi D., et al. "Unusual Clinical Expression and Long Survival of a Pseudouridylate Synthase (PUS1) Mutation Into Adulthood." Eur J Hum Genet 2015.