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

Year Number of Results
2011 1
2012 1
2013 2
2014 2
2015 2
2016 4
2017 6
2018 2
2019 4
2020 3
2021 3
2022 7
2023 2
2024 1

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37 results

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Page 1
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
Cotrina-Vinagre FJ, Rodríguez-García ME, Del Pozo-Filíu L, Hernández-Laín A, Arteche-López A, Morte B, Sevilla M, Pérez-Jurado LA, Quijada-Fraile P, Camacho A, Martínez-Azorín F. Cotrina-Vinagre FJ, et al. Among authors: quijada fraile p. J Hum Genet. 2024 May;69(5):187-196. doi: 10.1038/s10038-024-01228-7. Epub 2024 Feb 14. J Hum Genet. 2024. PMID: 38355957
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: quijada fraile p. J Hum Genet. 2023 Aug;68(8):577. doi: 10.1038/s10038-023-01164-y. J Hum Genet. 2023. PMID: 37237142 No abstract available.
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: quijada fraile p. J Hum Genet. 2023 Aug;68(8):543-550. doi: 10.1038/s10038-023-01150-4. Epub 2023 Apr 18. J Hum Genet. 2023. PMID: 37072624
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B. Soriano-Sexto A, et al. Among authors: quijada fraile p. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Martín-Rivada Á, Cambra Conejero A, Martín-Hernández E, Moráis López A, Bélanger-Quintana A, Cañedo Villarroya E, Quijada-Fraile P, Bellusci M, Chumillas Calzada S, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruíz-Sala P, Ugarte M, Pérez González B, Pedrón-Giner C. Martín-Rivada Á, et al. Among authors: quijada fraile p. J Pediatr Endocrinol Metab. 2022 Sep 19;35(10):1223-1231. doi: 10.1515/jpem-2022-0340. Print 2022 Oct 26. J Pediatr Endocrinol Metab. 2022. PMID: 36112821
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de Los Santos M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M. Martín-Hernández E, et al. Among authors: quijada fraile p. J Clin Med. 2022 Aug 28;11(17):5045. doi: 10.3390/jcm11175045. J Clin Med. 2022. PMID: 36078975 Free PMC article.
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
Bélanger-Quintana A, Arrieta Blanco F, Barrio-Carreras D, Bergua Martínez A, Cañedo Villarroya E, García-Silva MT, Lama More R, Martín-Hernández E, López AM, Morales-Conejo M, Pedrón-Giner C, Quijada-Fraile P, Stanescu S, Casanova MM. Bélanger-Quintana A, et al. Among authors: quijada fraile p. Nutrients. 2022 Jul 2;14(13):2755. doi: 10.3390/nu14132755. Nutrients. 2022. PMID: 35807935 Free PMC article. Review.
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Alcaide P, Ferrer-López I, Gutierrez L, Leal F, Martín-Hernández E, Quijada-Fraile P, Bellusci M, Moráis A, Pedrón-Giner C, Rausell D, Correcher P, Unceta M, Stanescu S, Ugarte M, Ruiz-Sala P, Pérez B. Alcaide P, et al. Among authors: quijada fraile p. J Clin Med. 2022 May 23;11(10):2933. doi: 10.3390/jcm11102933. J Clin Med. 2022. PMID: 35629059 Free PMC article.
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C. Martín-Rivada Á, et al. Among authors: quijada fraile p. JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281663 Free PMC article.
37 results