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Neurogenètica i Medicina Molecular

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Publicacions

  • López-Ramos MG, Vinent-Genestar J, Aarnoutse R, Colbers A, Velasco E, Martorell-Sampol L, Falcón-Neyra L, Neth O, Prieto L, Guillén S, Baquero-Artigao F, Méndez-Echevarría A, Gómez-Pastrana D, Jiménez AB, Lahoz R, Ramos-Amador JT, Soriano-Arandes A, Santiago B, Rosa Farré Riba, Fortuny-Guasch C, Soy D and Noguera-Julián A.

    Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age

    ANTIBIOTICS-BASEL . 12(2): .

    [doi:10.3390/antibiotics12020272]

  • Figuerola-Bou E, Rios-Astorch C, Blanco E, Sanchez-Jimenez M, Táboas-Outón P, Fernandez-Isern G, Gomez-Gonzalez S, Muñoz-Aznar O, Castellano P, Pérez-Jaume S, Prada-Varela E, Mateo-Lozano S, Riggi N, Avgustinova A, Lavarino C, Di Croce L, Sánchez-Molina S and Mora J.

    KDM6 demethylases mediate EWSR1-FLI1-driven oncogenic transformation in Ewing Sarcoma

    Biorxiv . : .

    [doi:10.1101/2023.01.24.524910]

  • Pijuan-Marquilles J, Macià A and Panosa A.

    Live Cell Adhesion, Migration, and Invasion Assays.

    Methods In Molecular Biology (clifton, N.J.) . 2644: 313-329. Nº de cites: 1

    [doi:10.1007/978-1-0716-3052-5_20]

  • Parada-Avendaño I, Salvador-Hernandez H, García RG, Martorell-Sampol L, García-Fontecha CG, Torner-Rubies F and Pérez-López LM.

    Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons

    Joint Diseases and Related Surgery . 34(1): 3-8. Nº de cites: 1

    [doi:10.52312/jdrs.2023.903]

  • Lopez-Mejia, Isabel C, Pijuan-Marquilles J, Navaridas, Raul, Santacana, Maria, Gatius, Sonia, Velasco, Ana, Castella, Gerard, Panosa, Anais, Cabiscol, Elisa, Pinyol, Miquel, Coll, Laura, Bonifaci, Nuria, Pena, Laura Plata, Vidal, August, Villanueva, Alberto, Gari, Eloi, Llobet-Navas, David, Fajas, Lluis, Matias-Guiu, Xavier and Yeramian, Andree.

    Oxidative stress-induced FAK activation contributes to uterine serous carcinoma aggressiveness

    MOLECULAR ONCOLOGY . 17(1): 98-118. Nº de cites: 10

    [doi:10.1002/1878-0261.13346]

  • Lorenzo D, Esquerda-Areste M, Palau F, Cambra-Lasaosa FJ and Grup Investigació en Bioética.

    Ethics and Genomic Editing Using the Crispr-Cas9 Technique: Challenges and Conflicts

    NanoEthics . 16(3): 313-321. Nº de cites: 4

    [doi:10.1007/s11569-022-00425-y]

  • Hernando-Davalillo C, Alcalá-San Martin A, Borregán M and Ortigoza-Escobar JD.

    De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder

    CLINICAL GENETICS . 102(5): 434-437. Nº de cites: 2

    [doi:10.1111/cge.14194]

  • Martorell-Sampol L, Macaya A, Pérez-Dueñas B and Ortigoza-Escobar JD.

    Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants

    Movement Disorders Clinical Practice . 9(7): 979-982. Nº de cites: 2

    [doi:10.1002/mdc3.13528]

  • Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Pathological Features in Paediatric Patients with TK2 Deficiency

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002. Nº de cites: 1

    [doi:10.3390/ijms231911002]

  • Beatriz Mínguez Rodríguez, Molera C, Martorell-Sampol L, Romero RG, Rivero GC and Martín-de-Carpi J.

    Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort

    GASTROENTEROLOGIA Y HEPATOLOGIA . 45(8): 585-592. Nº de cites: 3

    [doi:10.1016/j.gastrohep.2021.12.005]