Argitalpenak (135) Encarnacion Guillen Navarro argitalpenak

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2025

  1. Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients

    Biomedicines, Vol. 13, Núm. 3

  2. Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

    Orphanet Journal of Rare Diseases , Vol. 20, Núm. 1

2024

  1. Consenso de expertos para el manejo de pacientes con acondroplasia en tratamiento con vosoritida

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 101, Núm. 6, pp. 401-410

  2. European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

    Advances in Therapy

  3. HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

    Genes, Vol. 15, Núm. 6

  4. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  5. Other Genodermatoses

    Dermatology: Volume 1-2, Fifth Edition (Elsevier), pp. 1035-1066

  6. Whole Blood Transcriptome Analysis in Congenital Anemia Patients

    International Journal of Molecular Sciences, Vol. 25, Núm. 21

2023

  1. A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain)

    International Journal of Neonatal Screening, Vol. 9, Núm. 4

  2. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

    International Journal of Molecular Sciences, Vol. 24, Núm. 2

  3. Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

    GeroScience, Vol. 45, Núm. 1, pp. 543-553

  4. Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study

    Andrology, Vol. 11, Núm. 1, pp. 24-31

  5. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

    Genes, Vol. 14, Núm. 6

  6. Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency

    Children, Vol. 10, Núm. 2

  7. Ensayo clínico prenatal para la displasia ectodérmica hipohidrótica ligada al cromosoma X (DEHLX): proyecto EDELIFE

    Más dermatología, Núm. 44, pp. 23-27

  8. European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

    Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 219

  9. Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

    Journal of Clinical Medicine, Vol. 12, Núm. 15

  10. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

    Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 56

  11. Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases

    Nefrologia

  12. Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

    Genes, Vol. 14, Núm. 1