Investigación Epidemiológica en Enfermedades Raras

Neonatal myocardial ischemia and calcifications. Report of a case of generalized arterial calcification of infancy. Rev Esp Cardiol (Engl Ed). 2021 Feb;74(2):187-189

Del Castillo Velilla I, Ludeña Del Río M, López-Menchero Oliva JC, Ramos Navarro C, Bermejo-Sánchez E, Bejarano Ramírez N.

PUBMED DOI

Epidemiology of hereditary ataxias in Spain: hospital discharge registry and population-based mortality study. Neuroepidemiology. 2013;41(1):13-9

Alonso-Ferreira V, Villaverde-Hueso A, Hens MJ, Morales-Piga A, Abaitua I, Posada de la Paz M.

PUBMED DOI

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021 Mar;185(3):877-883

Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M.

PUBMED DOI

Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study. Ann Epidemiol. 2021 Apr;56:61-69.e3

Politis MD, Bermejo-Sánchez E, Canfield MA, Contiero P, Cragan JD, Dastgiri S, de Walle HEK, Feldkamp ML, Nance A, Groisman B, Gatt M, Benavides-Lara A, Hurtado-Villa P, Kallén K, Landau D, Lelong N, Lopez-Camelo J, Martinez L, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Šípek A, Szabova E, Wertelecki W, Zarante I, Bakker MK, Kancherla V, Mastroiacovo P, Nembhard WN; International Clearinghouse for Birth Defects Surveillance and Research.

PUBMED DOI

Investigación