Get started
Author

Luis Carlos Sainz Fernandez

Observed names: Fernandez, Luis, Fernández Luis, S., Fernández, Luis Carlos Saiz, L. Fernandez, Luis Fernandez, Luis Fernández, Luís Fernandez
Observed institutions: Hospital Universitario La Paz, Instituto de Salud Carlos III, Servicio Navarro de Salud, Spanish National Cancer Research Centre, Complejo Hospitalario de Salamanca, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, ERN ITHACA, Universidad Autónoma de Madrid
ORCID: 0000-0002-6755-6017
Observed ORCID: 0000-0002-6755-6017
OpenAlex ID: A5111723009
CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms
2010 · Valeria Romanelli, Alberta Belinchón, et al. · American Journal of Medical Genetics Part A · 73
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
2022 · Deborah Mackay, Jet Bliek, et al. · Clinical Epigenetics · 34
PDF
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism
2010 · Valeria Romanelli, Julián Nevado, et al. · Journal of Medical Genetics · 34
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
2019 · Rosa E. Enacán, Mariana Nuñez Miñana, et al. · Journal of Inborn Errors of Metabolism and Screening · 15
PDF
Long-term effectiveness and safety of tolvaptan in autosomal dominant polycystic kidney disease
2024 · Lorenzo Cantarelli, Marta Gutiérrez Valencia, et al. · Medicina Clínica · 5
Selective genome editing of amplified oncogenes triggers immunogenic cell death and tumor remodeling
2025 · A. Nieto-Sanchez, M. Martinez-Lage, et al. · Molecular Cancer
Long-term effectiveness and safety of tolvaptan in autosomal dominant polycystic kidney disease
2024 · Lorenzo Cantarelli, Marta Gutiérrez Valencia, et al. · Medicina Clínica (English Edition)
Macrohematuria: características clínicas, epidemiológicas y orientación diagnóstica
2016 · Sánchez-Villares Lorenzo, Claudia, Fernández Luis, S., et al. · Boletín de Pediatría
PDF
Works count: 10
Citation count: 161
H-index: 5
I10-index: 4
Year
Topic
Type