Concepedia

Sara Bertuzzo

SB

3

Publications

75

Citations

3

H-Index

2014

Active since

Affiliations

IRCCS Eugenio Medea(Current)

University of Pavia

Sara Bertuzzo is an author at IRCCS Eugenio Medea specializing in medicine, molecular genetics, and clinical genetics.

ORCID

Top concepts

Publications per year

2014–2018

3

Publications

3

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

Nehir Edibe Kurtas, Filippo Arrigoni, Edoardo Errichiello et al. · Journal of Medical Genetics · 2018 · 30 citations · Full text

De novo unbalanced translocations have a complex history/aetiology

María Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello et al. · Human Genetics · 2018 · 26 citations · Full text

Genotype–phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion

Isabella Fanizza, Sara Bertuzzo, Silvana Beri et al. · European Journal of Medical Genetics · 2014 · 19 citations

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