Publicaciones
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Lorenzo D, Esquerda-Areste M, Bofarull M, Cusi V, Roig H, Bertran J, Carrera J, Torralba F, Cambra-Lasaosa FJ, Vila M, Garriga M and Palau F.
The reuse of genetic information in research and informed consent
EUROPEAN JOURNAL OF HUMAN GENETICS . 31(12): 1393-1397. Nº de citas: 1
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Pijuan-Marquilles J, Moreno, DF, Yahya, G, Moisa, M, Ul Haq, I, Krukiewicz, K, Mosbah, R, Metwally, K and Cavalu, S.
Regulatory and pathogenic mechanisms in response to iron deficiency and excess in fungi
Microbial Biotechnology . 16(11): 2053-2071. Nº de citas: 3
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Ferri-Rufete D, López A, Casas-Alba D, Cuadras-Palleja D, Palau F and Martinez-Monseny T.
Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions
EUROPEAN JOURNAL OF MEDICAL GENETICS . 66(11): 104858-104858.
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Badosa-Gallego MC, Roldan-Molina M, Fernández-Irigoyen J, Santamaria E and Jimenez-Mallebrera C.
Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility
SCIENTIFIC REPORTS . 13(1): 14622-14622. Nº de citas: 1
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Roldan-Molina M, Nolasco-Tovar GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart-Lopez J, Ramírez-Almaraz ML, Martorell-Sampol L, Hernando-Davalillo C, Urreizti R and Serrano M.
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(18): .
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Blasi D, Gonzalez-Pato N, Rodriguez Rodriguez X, Diez-Zabala I, Srinivasan SY, Camarero N, Esquivias O, Roldan-Molina M, Guasch J, Laromaine A, Gorostiza P, Veciana J and Ratera I.
Ratiometric Nanothermometer Based on a Radical Excimer for In Vivo Sensing
Small . 19(32): . Nº de citas: 8
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Jana Domínguez Carral, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.
Severity of NAO1-Related Disorder Correlates with Changes in G-Protein Function
ANNALS OF NEUROLOGY . 94(5): 987-1004.
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Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
PEDIATRIC NEUROLOGY . 144: 11-15.
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León M, Prieto J, Molina-Navarro MM, García-García F, Barneo-Muñoz M, Ponsoda X, Sáez R, Palau F, Dopazo J, Izpisua Belmonte JC and Torres J.
Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response.
Cell Death Discovery . 9(1): 217-217.
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Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, López A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny T, Lorda-Sanchez I and Almoguera B.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
JOURNAL OF MEDICAL GENETICS . 60(7): 644-654. Nº de citas: 4