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

Year Number of Results
2003 1
2007 1
2008 1
2010 6
2011 3
2012 3
2013 3
2014 3
2015 3
2017 1
2018 1
2019 5
2020 5
2021 4
2022 4
2023 2
2024 0

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40 results

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Page 1
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
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, Lopez-Gonzalez 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 A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: garcia penas jj. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Outcomes from a Spanish Expanded Access Program on cannabidiol treatment in pediatric and adult patients with epilepsy.
Villanueva V, García-Ron A, Smeyers P, Arias E, Soto V, García-Peñas JJ, González-Alguacil E, Sayas D, Serrano-Castro P, Garces M, Hampel K, Tomás M, Lara J, de Toledo M, Barceló I, Aledo-Serrano A, Gil-Nagel A, Iacampo L, Falip M, Saiz-Diaz RA, Gómez-Ibañez A, Sopelana D, Sanchez-Larsen A, López-González FJ. Villanueva V, et al. Among authors: garcia penas jj. Epilepsy Behav. 2022 Dec;137(Pt A):108958. doi: 10.1016/j.yebeh.2022.108958. Epub 2022 Oct 29. Epilepsy Behav. 2022. PMID: 36327646
The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study.
Aledo-Serrano Á, Mingorance A, Villanueva V, García-Peñas JJ, Gil-Nagel A, Boronat S, Aibar J, Cámara S, Yániz MJ, Aras LM, Blanco B, Sánchez-Carpintero R. Aledo-Serrano Á, et al. Among authors: garcia penas jj. Front Neurol. 2022 Sep 1;13:975034. doi: 10.3389/fneur.2022.975034. eCollection 2022. Front Neurol. 2022. PMID: 36119672 Free PMC article.
Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years.
Ruiz Herrero J, Cañedo Villarroya E, García Peñas JJ, García Alcolea B, Gómez Fernández B, Puerta Macfarland LA, Pedrón-Giner C. Ruiz Herrero J, et al. Among authors: garcia penas jj. An Pediatr (Engl Ed). 2022 Jun;96(6):511-522. doi: 10.1016/j.anpede.2022.05.001. Epub 2022 May 29. An Pediatr (Engl Ed). 2022. PMID: 35650008 Free article.
Efficacy of Brivaracetam in children with epilepsy.
Ferragut Ferretjans F, Soto Insuga V, Bernardino Cuesta B, Cantarín Extremera V, Duat Rodriguez A, Legido MJ, González Alguacil E, Furones García M, Gutiérrez Solana L, Moreno Cantero T, Ruiz Falcó ML, García Peñas JJ. Ferragut Ferretjans F, et al. Among authors: garcia penas jj. Epilepsy Res. 2021 Nov;177:106757. doi: 10.1016/j.eplepsyres.2021.106757. Epub 2021 Sep 10. Epilepsy Res. 2021. PMID: 34530305
[Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years].
Ruiz Herrero J, Cañedo Villarroya E, García Peñas JJ, García Alcolea B, Gómez Fernández B, Puerta Macfarland LA, Pedrón-Giner C. Ruiz Herrero J, et al. Among authors: garcia penas jj. An Pediatr (Engl Ed). 2021 Jun 14:S1695-4033(21)00193-4. doi: 10.1016/j.anpedi.2021.05.006. Online ahead of print. An Pediatr (Engl Ed). 2021. PMID: 34140236 Spanish.
Use of carglumic acid in valproate-induced hyperammonemia: 25 pediatric cases.
Palomino Pérez LM, Martín-Rivada Á, Cañedo Villaroya E, García-Peñas JJ, Cuervas-Mons Vendrell M, Pedrón-Giner C. Palomino Pérez LM, et al. Among authors: garcia penas jj. JIMD Rep. 2020 Jun 11;55(1):3-11. doi: 10.1002/jmd2.12131. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905024 Free PMC article.
40 results