Concepedia

Sabrina Buoni

SB

43

Publications

2K

Citations

26

H-Index

1995

Active since

Affiliations

University of Siena(Current)

Azienda Ospedaliera Universitaria Senese

Ospedale Santa Maria alle Scotte

Bambino Gesù Children's Hospital

Radboud University Nijmegen

Sabrina Buoni is an author at University of Siena specializing in medicine, neuropathology, and neurology.

Top concepts

MedicineNeurologyNeuropathologyNeurosciencePathologyNeurogeneticsSocial SciencesGeneticsNeurophysiologyPediatrics

Publications per year

1995–2022

43

Publications

43

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Francesca Ariani, Dalila Rondinella, Rosangela Artuso et al. · The American Journal of Human Genetics · 2008 · 430 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +7

Novel <i>PTEN </i>mutations in neurodevelopmental disorders and macrocephaly

Alfredo Orrico, Laura Galli, Sabrina Buoni et al. · Clinical Genetics · 2009 · 106 citations

Neurodevelopmental Disorders, Developmental Biology, Somatic Mutations +14

Telomere length and obesity

Raffaella Zannolli, Angelika Mohn, Sabrina Buoni et al. · Acta Paediatrica · 2008 · 95 citations

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia

Raffaella Zannolli, Sabrina Buoni, Gianni Betti et al. · Movement Disorders · 2012 · 89 citations

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (<i>PARN</i>)

Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau et al. · Journal of Medical Genetics · 2015 · 88 citations

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