Publicaciones (141) Publicaciones de Encarnacion Guillen Navarro

filter_list

2026

  1. DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype–Phenotype Correlations

    Genes, Vol. 17, Núm. 5

  2. New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

    Journal of Internal Medicine, Vol. 299, Núm. 1, pp. 126-142

2025

  1. Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome

    Clinical Genetics

  2. Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum

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

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

    Biomedicines, Vol. 13, Núm. 3

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

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

  5. Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome

    Genes, Vol. 16, Núm. 8

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. Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era

    Nefrologia, Vol. 44, Núm. 1, pp. 69-76

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

    eLife, Vol. 13

  6. Other Genodermatoses

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

  7. 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