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List of works by Silvia Izquierdo Alvarez

3β-hydroxyesteroid dehydrogenase deficiency detected through increased serum levels of 17-hydroxyprogesterone in the neonatal screening.

scientific article published on 31 January 2018

A novel neurocutaneous syndrome: Legius syndrome. A case report

scientific article published in September 2014

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

scientific article published in 2023

Clinical implication of FMR1 intermediate alleles in a Spanish population.

scientific article published on 31 March 2018

Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children.

scientific article

Estimation of precision and inaccuracy for serum magnesium determination on the basis of interlaboratory comparison data Accreditation ISO 15189.

scientific article

Evaluation of blood mercury and serum selenium levels in the pregnant population of the Community of Madrid, Spain

scientific article published on 18 September 2019

Hereditary primary lateral sclerosis and progressive nonfluent aphasia

scientific article published on 05 March 2019

Heterozygous mutation in the receptor gene of the growth hormone as cause of short stature.

scientific article published on 30 November 2016

Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16

scientific article published on 11 September 2018

Magnesium concentration in amniotic fluid in the early weeks of the second trimester of pregnancy

scientific article

New pathogenic variant in the NPR2 gene: Etiology of low size, macrocephaly and bone dysplasia in a male with acromesomelic dysplasia Maroteaux-type

scientific article published on 20 July 2017

Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults.

scientific article

Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases

scientific article published on 30 October 2018

Osteogenesis imperfecta: Review of 40 patients

scientific article published on 10 March 2020

Post-exercise left ventricular dysfunction measured after a long-duration cycling event.

scientific article

Progressive spastic paraparesis and static syringomyelia: Silver syndrome/SPG17

scientific article

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient

article

Reference levels of trace elements in hair samples from children and adolescents in Madrid, Spain

scientific article published on 29 December 2016

Reticulocyte hemoglobin content (MCHr) in the detection of iron deficiency.

scientific article

Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome

scientific article published on 12 March 2020

The impact of exercise duration and intensity on the release of cardiac biomarkers.

scientific article published in April 2011

The need to update reference values for lead in Zaragoza, Spain

scientific article published on 08 February 2008

Total and speciated urinary arsenic levels in the Spanish population

scientific article published on 26 July 2016

Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family

scientific article published on 6 January 2016

Updating of normal levels of copper, zinc and selenium in serum of pregnant women

scientific article published on 07 November 2007

Validation of determination of lead (Pb) in blood by electrothermal atomic absorption spectrometry (ETAAS) on the basis of interlaboratory comparison data.

scientific article

[Accreditation: The road to excellence in clinical laboratory]

scientific article published on 01 November 2015

[Early infantile epileptic encephalopathy due to ITPA mutation]

scientific article published on 01 September 2020

[Infant with intracranial calcifications and retinopathy]

scientific article published on 01 October 2019

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