Adrián Alcalá San Martín
Ayudante de investigación
Grup de recerca
Perfils professionals a les xarxes
Últimes publicacions
- Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72.
- Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature Movement Disorders Clinical Practice . 10(4): 547-557.
- Hernando-Davalillo C, Alcalá-San Martin A, Borregán M and Ortigoza-Escobar JD De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder CLINICAL GENETICS . 102(5): 434-437.
Projectes
- Nom del projecte:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Investigador/a principal
- Francesc Palau Martínez
- Entitat/es finançadora/es:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Codi
- 2021 SGR 01610
- Data de inici-fi:
- 2022 - 2025