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Emma Colao

4PUBLICATIONS

12CO-AUTHORS

Haematological tumoursCancer geneticsEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)

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Publications (4)

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|Jan 21, 2023

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.

Maria Carmela Zagari, Paola Chiarello, Stefano Iuliano

|Jul 27, 2022

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Francesco Paduano, Emma Colao, Fernanda Fabiani

|Oct 23, 2021

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i>.

Francesco Paduano, Emma Colao, Teresa Grillone

|Sep 28, 2021

A Novel Splicing Variant of <i>COL2A1</i> in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera

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Frequent Collaborators

4 joint publications

Rodolfo Iuliano

1 joint publications

Valentina Bruni

1 joint publications

Andrea La Barbera

1 joint publications

Sabrina Giglio

1 joint publications

Marco Flavio Michele Vismara

1 joint publications

Chiara Mignogna

1 joint publications

Francesco Paduano

1 joint publications

Francesco Baudi

1 joint publications

Stefano Iuliano

1 joint publications

Nicola Perrotti

Frequent Collaborators

4 joint publications

Rodolfo Iuliano

1 joint publications

Valentina Bruni

1 joint publications

Andrea La Barbera

1 joint publications

Sabrina Giglio

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