A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report
González-Tarancón, R., Salvador-Rupérez, E., Goñi-Ros, N., Álvarez, S. Izquierdo, Sánchez-Navarro, I., García, M. Martínez, Segura, J. L. Peña, Lafuente, A. López
Published in Egyptian Journal of Medical Human Genetics (05.03.2022)
Published in Egyptian Journal of Medical Human Genetics (05.03.2022)
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The impact of exercise duration and intensity on the release of cardiac biomarkers
Serrano-Ostáriz, E., Terreros-Blanco, J. L., Legaz-Arrese, A., George, K., Shave, R., Bocos-Terraz, P., Izquierdo-Álvarez, S., Bancalero, J. L., Echavarri, J. M., Quilez, J., Aragonés, M. T., Carranza-García, L. E.
Published in Scandinavian journal of medicine & science in sports (01.04.2011)
Published in Scandinavian journal of medicine & science in sports (01.04.2011)
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CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn
Molina Herranz, D., García Escudero, C., Rite Gracia, S., Aguilar de la Red, Y., Martínez Nieto, J., Izquierdo Álvarez, S., Montañés Gracia, M.A., Recasens, V., Hernández Mata, C.F.
Published in Clinical biochemistry (01.04.2022)
Published in Clinical biochemistry (01.04.2022)
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Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation
Sánchez Marín, J.P., Sienes Bailo, P., Lahoz Alonso, R., Capablo Liesa, J.L., Gazulla Abio, J., Giménez Muñoz, J.A., Modrego Pardo, P.J., Pardiñas Barón, B., Izquierdo Álvarez, S.
Published in Neurología (Barcelona, English ed. ) (01.10.2023)
Published in Neurología (Barcelona, English ed. ) (01.10.2023)
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Clinical implication of FMR1 intermediate alleles in a Spanish population
Alvarez‐Mora, M.I., Madrigal, I., Martinez, F., Tejada, M.‐I., Izquierdo‐Alvarez, S., Sanchez‐Villar de Saz, P., Caro‐Llopis, A., Villate, O., Rodríguez‐Santiago, B., Pérez Jurado, L.A., Rodriguez‐Revenga, L., Milà, M.
Published in Clinical genetics (01.07.2018)
Published in Clinical genetics (01.07.2018)
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Journal Article
Distrofia miotónica tipo 1: 13 años de experiencia en un hospital terciario. Estudio clínico y epidemiológico. Correlación genotipo-fenotipo
Sánchez Marín, J.P., Sienes Bailo, P., Lahoz Alonso, R., Capablo Liesa, J.L., Gazulla Abio, J., Giménez Muñoz, J.A., Modrego Pardo, P.J., Pardiñas Barón, B., Izquierdo Álvarez, S.
Published in Neurología (Barcelona, Spain) (01.10.2023)
Published in Neurología (Barcelona, Spain) (01.10.2023)
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Nueva variante probablemente patogénica c.1249A>C en el exón 7 del gen GAA asociada a la enfermedad de Pompe del adulto
Roche Bueno, J.C, Arcos Sánchez, C, Salgado Álvarez de Sotomayor, F, Izquierdo-Álvarez, S, Miramar Gallart, M.D, Solera García, J
Published in Neurología (Barcelona, Spain) (01.06.2018)
Published in Neurología (Barcelona, Spain) (01.06.2018)
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Influence of immunoassay use in the determination of vitamin D
Alonso, R. Lahoz, Pintado, S. Górriz, Marín, J.P. Sánchez, Calmarza, M.P. Calmarza, Álvarez, S. Izquierdo
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Study of the presence of crystalluria produced by ureolytic bacteria in Zaragoza (Aragon, Spain) during 2018
Alonso, R. Lahoz, Conesa, R. Escobar, Flores, J.L. Bancalero, Álvarez, S. Izquierdo, Pintado, S. Górriz, Marín, J.P. Sánchez
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Combination of variant P.PRO153LEU and P.GLU158LYS polymorphism in FMO3 gene cause of “MILD” fish odor syndrome in a child of 2 years
Álvarez, S. Izquierdo, Valle, A. RodrÍguez, Gallart, M.D. Miramar, Villarroya, M.J. Alcaine, Pueyo, C. Lahuerta, LÓpez, J.J. Ochoa, Hevia, J.I. GonzÁlez, JimÉnez, I. GarcÍa, Puente, J.
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Premutation in FMR1 gene cause of gait ataxia in three adult males: FXTAS and hereditary ataxias
Álvarez, S. Izquierdo, Valle, A. RodrÍguez, Gallart, M.D. Miramar, Villarroya, M.J. Alcaine, Pueyo, C. Lahuerta, LÓpez, J.J. Ochoa, Hevia, J.I. GonzÁlez, MuÑoz, J.A. GimÉnez, Abio, J. Gazulla, Liesa, J.L. Capablo
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Myotonic dystrophy type1: 13years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation
Sánchez Marín, J P, Sienes Bailo, P, Lahoz Alonso, R, Capablo Liesa, J L, Gazulla Abio, J, Giménez Muñoz, J A, Modrego Pardo, P J, Pardiñas Barón, B, Izquierdo Álvarez, S
Published in Neurología (Barcelona, English ed. ) (07.05.2021)
Published in Neurología (Barcelona, English ed. ) (07.05.2021)
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Journal Article
Distrofia miotónica tipo1: 13años de experiencia en un hospital terciario. Estudio clínico y epidemiológico. Correlación genotipo-fenotipo
Sánchez Marín, J.P., Sienes Bailo, P., Lahoz Alonso, R., Capablo Liesa, J.L., Gazulla Abio, J., Giménez Muñoz, J.A., Modrego Pardo, P.J., Pardiñas Barón, B., Izquierdo Álvarez, S.
Published in Neurología (Barcelona, Spain) (01.10.2023)
Published in Neurología (Barcelona, Spain) (01.10.2023)
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Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults
Roche Bueno, J.C., Arcos Sánchez, C., Salgado Álvarez de Sotomayor, F., Izquierdo-Álvarez, S., Miramar Gallart, M.D., Solera García, J.
Published in Neurología (Barcelona, English ed. ) (01.06.2018)
Published in Neurología (Barcelona, English ed. ) (01.06.2018)
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Priority role of the laboratory in the prevention of renal lithiasis and its results
Flores, J.L. Bancalero, Conesa, R. Escobar, Pintado, S. Gorriz, Alonso, R. Lahoz, Frago, P. Serrano, Alvarez, S. Izquierdo, Rivero, M.V. MuÑoz, Palmer, R.A. Vela
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Implementation of the detection of “lithogenic risk” for the prevention and decrease of the recurrence of the renal lithiasis
Flores, J.L. Bancalero, Pintado, S. Gorriz, Conesa, R. Escobar, Socias, C. Frau, Alonso, R. Lahoz, Rivero, M.V. MuÑoz, Palmer, R.A. Vela, Alvarez, S. Izquierdo
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Urolithiasis in a Mediterranean Region of Europe (Aragon, Spain). Key role of the clinical laboratory in the knowledge of etiopatology and prevention of recurrences
Flores, J.L. Bancalero, Marin, J.P. Sanchez, Conesa, R. Escobar, Pintado, S. Gorriz, Rivero, M.V. MuÑoz, Socias, C. Frau, Alvarez, S. Izquierdo, Palmer, R.A. Vela
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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