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Publicaciones

  • Hoenicka J, García-Ruiz PJ, Ponce G, Herranz A, Martínez-Rubio D, Pérez-Santamarina E and Palau F.

    The Addiction-Related Gene ANKK1 in Parkinsonian Patients with Impulse Control Disorder

    NEUROTOXICITY RESEARCH . 27(3): 205-208. Nº de citas: 16

    [doi:10.1007/s12640-014-9504-x]

  • Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.

    5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

    JIMD Reports . 7: 123-128. Nº de citas: 13

    [doi:10.1007/8904_2012_166]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

    EUROPEAN JOURNAL OF HUMAN GENETICS . : .

    [doi:10.1038/s41431-024-01699-4]