Ilaria Parenti

Universität Duisburg-Essen

Germany

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Articles (13)

Year:

2024

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2024

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2023

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2023

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2023

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2022

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2022

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2022

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2022

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2021

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2021

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2021

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2021

Collaborators (10)

Xilma Ortiz-Gonzalez

Assistant Professor

University of Pennsylvania

UNITED STATES

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Maria Arnedo

Universidad de Zaragoza

SPAIN

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Elsa Leitão

Universitätsklinikum Essen Institut für Humangenetik

GERMANY

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Ilse Meerschaut

University Hospitals Leuven

BELGIUM

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Ana Latorre-Pellicer

SPAIN

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Cristina Gervasini

Associate professor

University of Milan

ITALY

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Theodore G. Drivas

UNITED STATES

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Ángel Aledo‐Serrano

SPAIN

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Axel Weber

Philipps-Universität Marburg

GERMANY

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Ilaria Parenti

Research Interests

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Articles (13)

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Cornelia de Lange syndrome and cancer: An open question

Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.

The different clinical facets of <i>SYN1</i>-related neurodevelopmental disorders.

<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

ANKRD11 variants: KBG syndrome and beyond.

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

Collaborators (10)

Xilma Ortiz-Gonzalez

Maria Arnedo

Elsa Leitão

Ilse Meerschaut

Ana Latorre-Pellicer

Cristina Gervasini

Siddharth Banka

Theodore G. Drivas

Ángel Aledo‐Serrano

Axel Weber

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