Publications in collaboration with researchers from Hospital Universitario La Fe (5)

2022

  1. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

  2. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2019

  1. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

    Genetics in Medicine

  2. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    Genetics in Medicine, Vol. 21, Núm. 6, pp. 1295-1307

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1