Encarnacion
Guillen Navarro
Profesores Titulares de Universidad Vinculados H.V.Arrixaca
Publicacións (138) Publicacións de Encarnacion Guillen Navarro
2024
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European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia
Advances in Therapy
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HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases
Genes, Vol. 15, Núm. 6
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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics
2023
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A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain)
International Journal of Neonatal Screening, Vol. 9, Núm. 4
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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
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Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years
GeroScience, Vol. 45, Núm. 1, pp. 543-553
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Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study
Andrology, Vol. 11, Núm. 1, pp. 24-31
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Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
Genes, Vol. 14, Núm. 6
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Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency
Children, Vol. 10, Núm. 2
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Ensayo clínico prenatal para la displasia ectodérmica hipohidrótica ligada al cromosoma X (DEHLX): proyecto EDELIFE
Más dermatología, Núm. 44, pp. 23-27
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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
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Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
Journal of Clinical Medicine, Vol. 12, Núm. 15
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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
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Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases
Nefrologia
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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
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Real-world evidence in achondroplasia: considerations for a standardized data set
Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1
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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
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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
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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
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Achondroplasia: Update on diagnosis, follow-up and treatment
Anales de Pediatria, Vol. 97, Núm. 6, pp. 423-423.e10