Gemma Iglesias

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

B. Martínez-Delgado, M. Posada, G. Gómez-Mariano, 2022, International journal of molecular sciences.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Dominant‐negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

A. Martinez-Mir, A. Macaya, F. Scholl, 2016, Movement disorders : official journal of the Movement Disorder Society.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.