Publicacions
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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: 6
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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: 3
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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
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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.
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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: 1
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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: 2
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Pata S, Flores-Rojas K, Gil A, López-Laso E, Marti-Sanchez L, Baide-Mairena H, Pérez-Dueñas B and Gil-Campos M.
Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency
ORPHANET JOURNAL OF RARE DISEASES . 17(1): 340-340. Nº de cites: 1
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Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell-Sampol L, Català-Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG and Kohl S.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA . 119(27): 211553811. Nº de cites: 3
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Rubies C, Batlle M, Sanz-de la Garza M, Dantas AP, Jorba I, Fernandez-Isern G, Sangüesa G, Abuli M, Brugada J, Sitges M, Navajas D, Mont L and Guasch E.
Long-Term Strenuous Exercise Promotes Vascular Injury by Selectively Damaging the Tunica Media Experimental Evidence
JACC-BASIC TO TRANSLATIONAL SCIENCE . 7(7): 681-693. Nº de cites: 13
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Castroflorio E, Pérez Berná AJ, López-Marquez A, Badosa-Gallego MC, Loza-Alvarez P, Roldan-Molina M and Jimenez-Mallebrera C.
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(14): 1-15. Nº de cites: 3