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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 3
2004 3
2005 5
2006 3
2007 8
2008 6
2009 1
2010 6
2011 5
2012 6
2013 1
2014 1
2016 2
2017 2
2018 2
2019 1
2020 1
2022 1
2023 1
2024 0

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52 results

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Page 1
Familial spinal neurofibromatosis.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Botella P, Viaño J. Pascual-Castroviejo I, et al. Among authors: velazquez fragua r. Neuropediatrics. 2007 Apr;38(2):105-8. doi: 10.1055/s-2007-985136. Neuropediatrics. 2007. PMID: 17712740
[Neuropsychological performance in neurofibromatosis type 1].
Hernández Del Castillo L, Martínez Bermejo A, Portellano Pérez JA, Tirado Requero P, Garriz Luis A, Velázquez Fragua R. Hernández Del Castillo L, et al. Among authors: velazquez fragua r. An Pediatr (Barc). 2017 Aug;87(2):73-77. doi: 10.1016/j.anpedi.2016.07.006. Epub 2016 Sep 14. An Pediatr (Barc). 2017. PMID: 27639957 Free article. Spanish.
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Pacio Miguez M, Santos-Simarro F, García-Miñaúr S, Velázquez Fragua R, Del Pozo Á, Solís M, Jiménez Rodríguez C, Rufo-Rabadán V, Fernandez VE, Rueda I, Gomez Del Pozo MV, Gallego N, Lapunzina P, Palomares-Bralo M. Pacio Miguez M, et al. Among authors: velazquez fragua r. Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18. Am J Med Genet A. 2020. PMID: 32808430 No abstract available.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. Among authors: velazquez fragua r. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053
Perampanel as adjuvant treatment in epileptic encephalopathies: A multicenter study in routine clinical practice.
Alonso-Singer P, Aguilar-Amat Prior MJ, Oliva-Navarro J, Massot-Tarrús A, Giráldez BG, Bermejo P, DeToledo-Heras M, Aledo-Serrano Á, Martínez-Cayuelas E, Tirado-Requero P, Velázquez-Fragua R, López-Sobrino G, Ojeda J. Alonso-Singer P, et al. Among authors: velazquez fragua r. Epilepsy Behav. 2022 Sep;134:108836. doi: 10.1016/j.yebeh.2022.108836. Epub 2022 Jul 20. Epilepsy Behav. 2022. PMID: 35870432
Schizencephaly: a study of 16 patients.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J, Quiñones D. Pascual-Castroviejo I, et al. Among authors: velazquez fragua r. Neurologia. 2012 Oct;27(8):491-9. doi: 10.1016/j.nrl.2011.06.005. Epub 2011 Sep 3. Neurologia. 2012. PMID: 21890242 Free article. English, Spanish.
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Epifani F, Pujol Serra SM, Llorens M, Balcells S, Nolasco G, Bolasell M, Aguilera-Albesa S, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R, Serrano M. Epifani F, et al. Among authors: velazquez fragua r. Sci Rep. 2023 Dec 20;13(1):22783. doi: 10.1038/s41598-023-49518-y. Sci Rep. 2023. PMID: 38129426 Free PMC article.
[Congenital cytomegalovirus infection and cortical/subcortical malformations].
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño Lopez J. Pascual-Castroviejo I, et al. Among authors: velazquez fragua r. Neurologia. 2012 Jul-Aug;27(6):336-42. doi: 10.1016/j.nrl.2011.12.017. Epub 2012 Feb 24. Neurologia. 2012. PMID: 22365270 Free article. Spanish.
Focal cortical dysplasia. Clinical-radiological-pathological associations.
Pascual-Castroviejo I, Hernández-Moneo JL, Gutiérrez-Molina ML, Viaño J, Pascual-Pascual SI, Velazquez-Fragua R, Morales C, Quiñones D. Pascual-Castroviejo I, et al. Among authors: velazquez fragua r. Neurologia. 2012 Oct;27(8):472-80. doi: 10.1016/j.nrl.2011.10.012. Epub 2012 Jan 2. Neurologia. 2012. PMID: 22217526 Free article. English, Spanish.
52 results