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Berardo Rinaldi

9PUBLICATIONS
39CO-AUTHORS
Medical biotechnology diagnostics (incl. biosensors)Respiratory diseasesDevelopmental genetics (incl. sex determination)Digital processor architecturesGene expression (incl. microarray and other genome-wide approaches)
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Journal

Publications (9)

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|Jan 28, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi

|Jun 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the <i>CREBBP</i> Gene.

Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta

|Feb 22, 2024
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Francesca Cogliati, Letizia Straniero, Valeria Rimoldi

|Dec 01, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Berardo Rinaldi, Allan Bayat, Linda G Zachariassen

|Apr 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi

|Feb 27, 2023
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

Beatrice Conti, Berardo Rinaldi, Martina Rimoldi

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Frequent Collaborators

5 joint publications

Maria Francesca Bedeschi

2 joint publications

Allan Bayat

2 joint publications

Yun Stone Shi

2 joint publications

Laura Pezzoli

2 joint publications

Donatella Milani

2 joint publications

Maria Iascone

1 joint publications

Carolyn Brown

1 joint publications

Diane Masser-Frye

1 joint publications

Dan Wu

1 joint publications

Benedicte Gerard

Frequent Collaborators

5 joint publications

Maria Francesca Bedeschi

2 joint publications

Allan Bayat

2 joint publications

Yun Stone Shi

2 joint publications

Laura Pezzoli

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