Publicaciones
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Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Julià-Palacios NA, Garcia-Cazorla A, Dionisi-Vici C and Kölker S.
U-IMD: the first Unified European registry for inherited metabolic diseases
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 95-95. Nº de citas: 19
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García-Hernández JL, Corchete LA, Marcos-Alcalde Í, Gómez-Puertas P, Fons-Estupina C and Lazo PA.
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
HUMAN GENOMICS . 15(1): 11-11. Nº de citas: 4
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Ortíz-Maldonado V, Rives-Solà S, Castellà M, Alonso-Saladrigues A, Benítez-Ribas D, Caballero-Baños M, Baumann T, Jordi Cid Colom, Garcia-Rey E, Llanos C, Torrebadell-Burriel M, Villamor N, Giné E, Díaz-Beyá M, Guardia L, Montoro M, Català-Temprano A, Faura A, González EA, Español-Rego M, Klein-González N, Alsina L, Castro P, Jordán-García I, Fernández S, Ramos F, Suñé G, Perpiñá U, Canals JM, Lozano M, Trias E, Scalise A, Varea S, Sáez-Peñataro J, Torres F, Calvo G, Esteve J, Urbano-Ispizua Á, Juan-Otero M and Delgado J.
CART19-BE-01: A Multicenter Trial of ARI-0001 Cell Therapy in Patients with CD19+Relapsed/Refractory Malignancies
MOLECULAR THERAPY . 29(2): 636-644. Nº de citas: 102
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Castells AA, Balada R, Tristan-Noguero A, O'Callaghan-Gordo M, Cortés-Saladelafont E, Pascual-Alonso A, Garcia-Cazorla A, Armstrong-Moron J and Alcántara S.
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy
Biomedicines . 9(2): 148. Nº de citas: 4
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Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart-Lopez J, Cortes F, Hernando-Davalillo C, Montero-Sanchez R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S and Serrano M.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
HUMAN MUTATION . 42(2): 142-149. Nº de citas: 11
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Cruz-Martínez O, Caloretti V, Salvador-Hernandez H, Celis-Passini V, Santa-María López V, Morales-La Madrid A, Suñol M, Puerta P, Muchart-Lopez J, Krauel L and Lavarino C.
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
HEREDITARY CANCER IN CLINICAL PRACTICE . 19(1): 1-1. Nº de citas: 1
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Nalpas, N, Hoyles, L, Anselm, V, Ganief, T, Martinez-Gili, L, Grau-Páez C, Droste-Borel, I, Davidovic, L, Altafaj, X, Dumas, ME and Macek, B.
An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome
Gut Microbes . 13(1): . Nº de citas: 12
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Ferreira CR, Rahman S, Keller M, Zschocke J and ICIMD Advisory Group.
An international classification of inherited metabolic disorders (ICIMD)
JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 164-177. Nº de citas: 183
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Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons-Estupina C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R, Arzimanoglou A, Panagiotakaki E, Mikati MA, Duke AHC Research Group and French AHC Consortium.
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration
brain communications . 3(3): . Nº de citas: 10
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Rubio-Gozalbo, ME, Derks, B, Das, AM, Meyer, U, Moslinger, D, Couce, ML, Empain, A, Ficicioglu, C, Julià-Palacios NA, de los Santos MM, Rivera, IA, Scholl-Burgi, S, Bosch, AM, Cassiman, D, Demirbas, D, Gautschi, M, Knerr, I, Labrune, P, Skouma, A, Verloo, P, Wortmann, SB, Treacy, EP, Timson, DJ and Berry, GT.
Galactokinase deficiency: lessons from the GalNet registry
GENETICS IN MEDICINE . 23(1): 202-210. Nº de citas: 18