Publikationen, an denen er mitarbeitet Encarnacion Guillen Navarro (31)

2023

  1. 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

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

    Genes, Vol. 14, Núm. 6

  3. 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. Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases

    Anales de Pediatria, Vol. 96, Núm. 3, pp. 253-255

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  4. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  5. Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study

    Anales de Pediatria, Vol. 95, Núm. 6, pp. 448-458

2020

  1. First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene

    Anales de Pediatria, Vol. 92, Núm. 3, pp. 169-171

2019

  1. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Genetic predisposition to fetal alcohol syndrome: Association with congenital disorders of N-glycosylation

    Pediatric Research, Vol. 83, Núm. 1, pp. 119-127

2017

  1. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39

2016

  1. Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence

    Anales de Pediatria, Vol. 84, Núm. 2, pp. 114-115

  2. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

    American Journal of Human Genetics, Vol. 98, Núm. 2, pp. 363-372

2015

  1. Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 786-790

  2. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 902-906

  3. Schinzel-Giedion syndrome: A new mutation in SETBP1

    Anales de Pediatria, Vol. 82, Núm. 1, pp. e12-e16

2014

  1. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement

    Genomics, Vol. 103, Núm. 4, pp. 288-291

  2. Conceptos de dismorfología: exploración del niño dismórfico

    Tratado de pediatría (Editorial Médica Panamericana), pp. 488-491