Concepedia

Mario Loi

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Statistics

Publications

7

Citations

225

H-Index

7

Active since

2002

Affiliations

University of Cagliari(Current)

Azienda Ospedaliera G. Brotzu

Institute of Genetic and Biomedical Research

University of Pavia

Policlinico San Matteo Fondazione

Mario Loi is an author at University of Cagliari specializing in life sciences, genetic disorders, and genetics.

Publications per year

2002–2009

7

Publications

7

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members

A Nucaro, Marta Meloni, Tiziana Pisano et al. · American Journal of Medical Genetics Part A · 2008 · 69 citations

, , +14

OCRLMutation analysis in Italian patients with Lowe syndrome

Maria Addis, Mario Loi, Carmen Lepiani et al. · Human Mutation · 2004 · 37 citations · Full text

, , +17

Reflex periodic spasms induced by eating

Angelo Labate, Eleonora Colosimo, Antonio Gambardella et al. · Brain and Development · 2006 · 30 citations

, , +8

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

Milena Cau, Maria Addis, Rita Congiu et al. · Journal of Human Genetics · 2006 · 30 citations

, , +13

Phenotypic variability of DYT1‐PTD: Does the clinical spectrum include psychogenic dystonia?

Anna Rita Bentivoglio, Mario Loi, Enza Maria Valente et al. · Movement Disorders · 2002 · 29 citations

, , +12

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