Anna Duat

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

Silvia M. Vidal, Núria Brandi, Paola Pacheco et al. · Scientific Reports · 2017 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Nevus Anemicus: A Distinctive Cutaneous Finding in Neurofibromatosis Type 1

Á. Hernández‐Martín, Francisco Javier García‐Martínez, Anna Duat et al. · Pediatric Dermatology · 2015 · 27 citations

Medicine, Dermatology, Pathology +14

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

Clara Xiol, Silvia M. Vidal, Ainhoa Pascual‐Alonso et al. · Scientific Reports · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

Alberto Fernández‐Jaén, Sara Álvarez, Eui Young So et al. · European Journal of Paediatric Neurology · 2016 · 21 citations · Full text

Life Sciences, Genetics, Neurology +7