Anna Ruiz

Institute of Research and Innovation Parc Tauli

Spain

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Articles (10)

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2025

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2024

Year:

2024

Year:

2024

Year:

2023

Year:

2021

Collaborators (9)

Christiane Zweier

SWITZERLAND

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Veerle Janssens

Professor

KU Leuven

BELGIUM

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William Dobyns

Professor

University of Minnesota

UNITED STATES

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Jose Luis Soto

Associate Professor

Universidad de Alicante

SPAIN

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Cedric Asensio

Associate Professor

University of Denver

UNITED STATES

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Arockia Jeyaprakash Arulanandam

Professor

Ludwig-Maximilians-Universität München

GERMANY

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Philipp Greif

University Hospital, LMU Munich

GERMANY

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Lidia Feliubadaló

SPAIN

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Axel Weber

Philipps-Universität Marburg

GERMANY

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Anna Ruiz

Research Interests

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Articles (10)

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies

Further delineation of the SCAF4-associated neurodevelopmental disorder

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

Case report: Identification of a novel variant p.Gly215Arg in the <i>CHN1</i> gene causing Moebius syndrome.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

Collaborators (9)

Christiane Zweier

Veerle Janssens

William Dobyns

Jose Luis Soto

Cedric Asensio

Arockia Jeyaprakash Arulanandam

Philipp Greif

Lidia Feliubadaló

Axel Weber

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