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

Year Number of Results
2003 2
2004 1
2005 3
2007 5
2008 6
2009 6
2010 7
2011 3
2012 5
2014 2
2015 2
2016 3
2017 1
2020 3
2021 3
2022 5
2023 2
2024 0

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55 results

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Page 1
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R; KCNT2-study group; Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M. Cioclu MC, et al. Ann Neurol. 2023 Aug;94(2):332-349. doi: 10.1002/ana.26662. Epub 2023 May 22. Ann Neurol. 2023. PMID: 37062836
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Among authors: sanchez a. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-Valle R, Madrigal I. Alvarez-Mora MI, et al. Among authors: sanchez a. Genes (Basel). 2023 Mar 28;14(4):813. doi: 10.3390/genes14040813. Genes (Basel). 2023. PMID: 37107571 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
BAG3 Genetic Cardiomyopathy May Overlap Fulminant Myocarditis Clinical Findings.
Jordà P, Martínez D, Farrero M, Marcos MÁ, Sandoval E, Castel MÁ, Pereda D, Quintana E, Arbelo E, Sánchez A, Campuzano Ò, Tirón de Llano C, Brugada R, Brugada J, Castellá M, Pérez-Villa F, García-Álvarez A. Jordà P, et al. Among authors: sanchez a. Circ Heart Fail. 2022 Mar;15(3):e008443. doi: 10.1161/CIRCHEARTFAILURE.121.008443. Epub 2021 Dec 6. Circ Heart Fail. 2022. PMID: 35290091 No abstract available.
Epidemiologic Features and Control Measures during Monkeypox Outbreak, Spain, June 2022.
Suárez Rodríguez B, Guzmán Herrador BR, Díaz Franco A, Sánchez-Seco Fariñas MP, Del Amo Valero J, Aginagalde Llorente AH, de Agreda JPAP, Malonda RC, Castrillejo D, Chirlaque López MD, Chong Chong EJ, Balbuena SF, García VG, García-Cenoz M, Hernández LG, Montalbán EG, Carril FG, Cortijo TG, Bueno SJ, Sánchez AL, Linares Dópido JA, Lorusso N, Martins MM, Martínez Ochoa EM, Mateo AM, Peña JM, Antón AIN, Otero Barrós MT, Martinez MDCP, Jiménez PP, Martín OP, Rivas Pérez AI, García MS, Response Group NM, Soria FS, Sierra Moros MJ. Suárez Rodríguez B, et al. Among authors: sanchez al. Emerg Infect Dis. 2022 Sep;28(9):1847-1851. doi: 10.3201/eid2809.221051. Epub 2022 Jul 12. Emerg Infect Dis. 2022. PMID: 35820165 Free PMC article.
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. Romanelli V, et al. Among authors: sanchez a. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Am J Med Genet A. 2010. PMID: 20503313 Review.
Immunisation against meningococcus B: the case of Spain.
Sánchez AL, Navarro-Alonso JA, Salmerón García F. Sánchez AL, et al. Lancet. 2014 Jan 18;383(9913):217-8. doi: 10.1016/S0140-6736(14)60071-4. Lancet. 2014. PMID: 24439736 No abstract available.
55 results