Publicaciones (126) Publicaciones de Encarnacion Guillen Navarro

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

  13. Real-world evidence in achondroplasia: considerations for a standardized data set

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  14. Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

2022

  1. A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain

    Global and Regional Health Technology Assessment, Vol. 9, pp. 14-21

  2. A new case of Dias-Logan syndrome: A previously unreported de novo pathogenic BCL11A variant (c.1076_1100)

    Neurology Perspectives, Vol. 2, Núm. 3, pp. 176-178

  3. Achondroplasia: Update on diagnosis, follow-up and treatment

    Anales de Pediatria, Vol. 97, Núm. 6, pp. 423-423.e10

  4. Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

    Cancers, Vol. 14, Núm. 15

  5. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

    International Journal of Molecular Sciences, Vol. 23, Núm. 15

  6. EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms

    Journal of Inherited Metabolic Disease, Vol. 45, Núm. 6, pp. 1163-1174