Publicaciones
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Vega-García N, Benito R, Esperanza-Cebollada E, Llop M, Robledo C, Vicente-Garces C, Alonso J, Barragán E, Fernandez-Isern G, Hernández-Sánchez JM, Martín-Izquierdo M, Maynou-Fernández J, Minguela A, Montaño A, Ortega M, Torrebadell-Burriel M, Cervera J, Sánchez J, Jiménez-Velasco A, Riesco S, Hernández-Rivas JM, Lassaletta Á, Fernández JM, Rives-Solà S, Dapena JL, Ramírez M and Camós-Guijosa M.
Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia
Journal of Personalized Medicine . 10(4): 244. Nº de citas: 1
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Batlle C and Ventura S.
Prion-like domain disease-causing mutations and misregulation of alternative splicing relevance in limb-girdle muscular dystrophy (LGMD) 1G
NEURAL REGENERATION RESEARCH . 15(12): 2239-2240. Nº de citas: 5
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Vilaseca M, Burgos-Fernandez FJ, Rey-Barroso L, Roldan-Molina M, Gassiot S, Sarrate E, Isola I and Ruiz-Llobet A.
Hyperspectral imaging for skin cancer and blood disorders diagnosis.
Asian Journal of Physics . 29(10-12): 1-20.
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Cantarero-Abad L, Juárez-Escoto E, Civera-Tregon A, Rodriguez-Sanz, Maria, Roldan-Molina M, Benítez R, Hoenicka J and Palau F.
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease
HUMAN MOLECULAR GENETICS . 29(22): 3589-3605. Nº de citas: 41
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Vanegas MI, Marcé-Grau A, Marti-Sanchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC and Pérez-Dueñas B.
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
PARKINSONISM & RELATED DISORDERS . 80: 165-174. Nº de citas: 6
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Callejas-Díaz B, Fernandez-Isern G, Fuentes M, Martínez-Antón A, Alobid I, Roca-Ferrer J, Picado C, Tubita V and Mullol J.
Integrated mRNA and microRNA transcriptome profiling during differentiation of human nasal polyp epithelium reveals an altered ciliogenesis
ALLERGY . 75(10): 2548-2561. Nº de citas: 24
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Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples
ANTIOXIDANTS . 9(10): . Nº de citas: 13
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Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons-Estupina C, Fernández-López A, Martorell-Sampol L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R and Van Esch H.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
AMERICAN JOURNAL OF HUMAN GENETICS . 107(4): 753-762. Nº de citas: 27
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Dal-Ré R, Palau F, Guillén-Navarro E and Ayuso C.
Participant-funded clinical trials on rare diseases
ANALES DE PEDIATRIA . 93(4): . Nº de citas: 3
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Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de citas: 15