About
Contact & Profiles
A5079846086
Research Areas
- Antimicrobial Resistance in Staphylococcus
- Molecular Biology Techniques and Applications
- Gene expression and cancer classification
- Genomic variations and chromosomal abnormalities
- Bacterial Identification and Susceptibility Testing
- Genomics and Chromatin Dynamics
- Folate and B Vitamins Research
- Bone Tumor Diagnosis and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Biosimilars and Bioanalytical Methods
- Pancreatic and Hepatic Oncology Research
- Sarcoma Diagnosis and Treatment
Hospital Universitario de Móstoles
2019-2025
10.1016/j.aca.2025.343671
article
EN
Analytica Chimica Acta
2025-01-17
Background A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome. Methods We newly identified 17 variants, predicted variant pathogenicity using silico tests vitro functional assays analysed patients’ phenotypes. Results All were novel, distinct heterozygous. Seven HMG-domain five stop-gain classified...
10.1136/jmedgenet-2021-108375
article
EN
Journal of Medical Genetics
2022-03-01
10.1016/j.cca.2019.03.441
article
EN
Clinica Chimica Acta
2019-05-15
Coming Soon ...