Publicacions
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Opladen T, López-Laso E, Cortés-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, Garcia-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch-Iriberri R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O and International Working Group on Neurotransmitter related Disorders (iNTD).
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 126-126. Nº de cites: 107
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Leon KE, Schubert RD, Casas-Alba D, Hawes IA, Ramachandran PS, Ramesh A, Pak JE, Wu W, Cheung CK, Crawford ED, Khan LM, Launes-Montana C, Sample HA, Zorn KC, Cabrerizo M, Valero-Rello A, Langelier C, Munoz-Almagro C, DeRisi JL and Wilson MR.
Genomic and serologic characterization of enterovirus A71 brainstem encephalitis
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 7(3): . Nº de cites: 26
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Marta Sanz Palau, López-Sala A, Palacio-Navarro A, Turón M, Callejón L, Sans A, Poo P, Boix Lluch C and Colomé-Roura R.
Prognostic factors and profile in traumatic brain injury in the paediatric age
REVISTA DE NEUROLOGIA . 70(7): 235-245. Nº de cites: 3
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Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.
Molecular characterization of Spanish patients with MECP2 duplication syndrome
CLINICAL GENETICS . 97(4): 610-620. Nº de cites: 20
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Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol-Plana J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF, SOGRI Consortium and Lapunzina P.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
EUROPEAN JOURNAL OF HUMAN GENETICS . 28(4): 469-479. Nº de cites: 25
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Casas-Alba D, Clotet J, Inarejos E, Jou-Munoz C, Fons-Estupina C and Molera C.
Broadening the spectrum of neonatal hemochromatosis
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 33(6): 1024-1026. Nº de cites: 6
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Ruiz-Llobet A, Isola I, Gassiot S, Català-Temprano A, Díaz-Ricart M, Martinez-Monseny T, Serrano M and Berrueco R.
Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood
THROMBOSIS AND HAEMOSTASIS . 120(3): 457-465. Nº de cites: 6
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Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.
Clinical presentation and proteomic signature of patients with TANGO2 mutations
JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Nº de cites: 51
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Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Nº de cites: 26
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de la Fuente J, Amate J, González-Torres MC, Artuch-Iriberri R, García-Torrecillas JM and Fadda S.
Effects of Levels of Self-Regulation and Regulatory Teaching on Strategies for Coping With Academic Stress in Undergraduate Students
FRONTIERS IN PSYCHOLOGY . 11: 22-22. Nº de cites: 35
