Anna Ruiz-Nello

13PUBLICATIONS
122CO-AUTHORS
Central nervous systemMechanobiologyDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Neurogenetics
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Publications (13)

|Aug 05, 2026
Expanding the Neurological Phenotype of ZTTK Syndrome: A Case of Recurrent Acute Confusional Migraine.

|Feb 24, 2025
A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.

Juan Pablo Trujillo-Quintero, Anna Brunet-Vega, Nino Spataro

|Jan 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Laura Trujillano, Irene Valenzuela, Mar Costa-Roger

|Dec 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.

Cosima M Schmid, Anne Gregor, Anna Ruiz

|Jan 02, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize

|Mar 29, 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Nino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso

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Frequent Collaborators

3 joint publications

Nino Spataro

2 joint publications

Victor Martinez-Glez

2 joint publications

Frederic Tran Mau-Them

2 joint publications

Joan Petanas Argemi