Anna Ruiz-Nel Lo
12PUBLICATIONS
120CO-AUTHORS
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Publications (12)
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|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
|Dec 21, 2021
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.Audrey Schalk, Margot A Cousin, Nikita R Dsouza
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Frequent Collaborators
2 joint publications
Nino Spataro
2 joint publications
Frederic Tran Mau-Them
2 joint publications
André Reis
2 joint publications
Francois Lecoquierre
1 joint publications
Daniel J Parente
1 joint publications
Marwan Shinawi
1 joint publications
Alfons Macaya
1 joint publications
Dietrich Trümbach
1 joint publications
Laurence Hubert
1 joint publications
Philipp A Greif
