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

Year Number of Results
1993 1
2002 1
2003 5
2004 1
2005 5
2006 3
2007 9
2008 8
2009 6
2010 11
2011 5
2012 11
2013 9
2014 5
2015 17
2016 17
2017 7
2018 10
2019 12
2020 17
2021 17
2022 16
2023 12
2024 4

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186 results

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Page 1
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R. Palma-Milla C, et al. Among authors: martin ma. Pediatr Neurol. 2024 Mar 14;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Online ahead of print. Pediatr Neurol. 2024. PMID: 38569228
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F, Serrano-Lorenzo P, Bermejo-Guerrero L, Blázquez A, Quesada-Espinosa JF, Amigo J, Minguez P, Ayuso C, García-Arumí E, Muelas N, Jaijo T, Nascimento A, Galán-Rodriguez B, Paradas C, Arenas J, Carracedo A, Martí R, Martín MA, Domínguez-González C; for TK2d Spanish-Group. Ceballos F, et al. Among authors: martin ma. Neurol Genet. 2024 Mar 25;10(2):e200138. doi: 10.1212/NXG.0000000000200138. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38544965 Free PMC article.
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
Guerrero-Molina MP, Bernabeu-Sanz Á, Ramos-González A, Morales-Conejo M, Delmiro A, Domínguez-González C, Arenas J, Martín MA, González de la Aleja J. Guerrero-Molina MP, et al. Among authors: martin ma. Neuroradiology. 2024 Mar;66(3):389-398. doi: 10.1007/s00234-023-03263-1. Epub 2023 Dec 19. Neuroradiology. 2024. PMID: 38114794
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
González-Quintana A, Garrido-Moraga R, Palencia-Pérez SI, Hernández-Martín Á, Sánchez-Munárriz J, Lezana-Rosales JM, Quesada-Espinosa JF, Martín MA, Arteche-López A. González-Quintana A, et al. Among authors: martin ma. Genes (Basel). 2023 Jul 22;14(7):1494. doi: 10.3390/genes14071494. Genes (Basel). 2023. PMID: 37510397 Free PMC article.
A randomized, double-blind, placebo-controlled clinical trial of the use of hydroxycitric acid adjuvant to shock wave lithotripsy therapy in patients with calcium stones. Stone fragmentation results.
Del Carmen Cano García M, Cobos RC, Bohorquez ÁV, Díaz PM, Castillo YY, Ruiz CR, Gutiérrez-Tejero F, Polo MÁA, Martín MA. Del Carmen Cano García M, et al. Urolithiasis. 2023 May 30;51(1):83. doi: 10.1007/s00240-023-01456-0. Urolithiasis. 2023. PMID: 37249658 Free PMC article. Clinical Trial.
186 results