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Year Number of Results
2006 1
2010 2
2011 1
2012 1
2013 2
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2019 3
2020 2
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2024 0

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Page 1
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Cornejo-Sanchez DM, Acharya A, Bharadwaj T, Marin-Gomez L, Pereira-Gomez P, Nouel-Saied LM, University Of Washington Center For Mendelian Genomics, Nickerson DA, Bamshad MJ, Mefford HC, Schrauwen I, Carrizosa-Moog J, Cornejo-Ochoa W, Pineda-Trujillo N, Leal SM. Cornejo-Sanchez DM, et al. Among authors: pineda trujillo n. Genes (Basel). 2022 Apr 25;13(5):754. doi: 10.3390/genes13050754. Genes (Basel). 2022. PMID: 35627139 Free PMC article.
[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].
García-Medina JS, Sarmiento-Ramón MP, Lopera-Cañaveral MV, Zuluaga-Espinosa NA, Forero-Torres AC, Toro-Ramos M, Pineda-Trujillo N. García-Medina JS, et al. Among authors: pineda trujillo n. Andes Pediatr. 2022 Aug;93(4):585-590. doi: 10.32641/andespediatr.v93i4.4019. Andes Pediatr. 2022. PMID: 37906859 Free article. Spanish.
Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.
Tascón-Arcila J, Rojas-Jiménez S, Cornejo-Sánchez D, Gómez-Builes P, Ucroz-Benavides A, Holguín BM, Restrepo-Arbeláez D, Gómez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W, Pineda-Trujillo N. Tascón-Arcila J, et al. Among authors: pineda trujillo n. J Child Neurol. 2021 Sep;36(10):875-882. doi: 10.1177/08830738211015017. Epub 2021 May 27. J Child Neurol. 2021. PMID: 34039076
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR, Villegas A, Acosta N, Pineda-Trujillo NG, Ramírez JD, Zea J, Burley MW, Bedoya G, Bennett DL, Wood JN, Ruiz-Linares A. Kremeyer B, et al. Among authors: pineda trujillo ng. Neuron. 2010 Jun 10;66(5):671-80. doi: 10.1016/j.neuron.2010.04.030. Neuron. 2010. PMID: 20547126 Free PMC article.
20 results