Loreto Martorell Sampol
Investigador post-doc
Research group
Professional network profiles
Last Publications
- Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study Frontiers in pediatrics . 11: 1184529-1184529.
- Ros, NG, Bailo, PS, Tarancon, RG, Martorell-Sampol L and Alvarez, SI No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon advances in laboratory medicine-avances en medicina de laboratorio . 4(2): 185-189.
- Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report clinical case reports . 11(4): .
Projects
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2024
- Project name:
- FIS 2017_Atrofia cerebelosa en la infancia: desarrollo de herramientas clínico-radiológicas para un fenotipado de precisión, algoritmo diagnóstico integral e identificación de nuevos genes
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI17/00101
- Starting - finishing date:
- 2018 - 2022
- Project name:
- Rare Coding Genetic Variants Associated with neonatal arterial ischemic stroke
- Leader
- Alfredo Garcia-Alix Pérez
- Funding entities:
- Fundació La Marató de TV3
- Code
- 201714.10
- Starting - finishing date:
- 2018 - 2021