Concepedia

Pietro Palumbo

PP

32

Publications

824

Citations

17

H-Index

2012

Active since

Affiliations

Casa Sollievo della Sofferenza(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

University of Bari Aldo Moro

University of Turin

Ospedale San Carlo

Pietro Palumbo is an author at Casa Sollievo della Sofferenza specializing in medicine, genetics, and genomics.

ORCID

Top concepts

Publications per year

2012–2023

32

Publications

32

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Annalisa Vetro, Mohammadreza Dehghani, Lilia Kraoua et al. · European Journal of Human Genetics · 2014 · 108 citations · Full text

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A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

Enza Mozzillo, Maurizio Delvecchio, Massimo Carella et al. · BMC Medical Genetics · 2014 · 75 citations · Full text

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Laïla El Khattabi, Fabien Guimiot, Eva Pipiras et al. · European Journal of Human Genetics · 2014 · 67 citations · Full text

, , +8

<i>TBR1</i> is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

Orazio Palumbo, Marco Fichera, Pietro Palumbo et al. · American Journal of Medical Genetics Part A · 2014 · 48 citations

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination

Orazio Palumbo, Leonardo D’Agruma, Adelaide Franca Minenna et al. · Gene · 2012 · 40 citations

, , +12

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