Francesca Mari
0000-0003-1992-1654
Publication & Citation Trends
Publications
0 total
MET is a new confirmed gene responsible for familial distal arthrogryposis OA
Cited by 1
Semantic Scholar
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.
Cited by 2
Semantic Scholar
ARID1B-related disorder in 87 adults: Natural history and self-sustainability OA
Cited by 6
Semantic Scholar
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development OA
Cited by 1
Semantic Scholar
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2-Related Neural Disorder: A Possible New Cell-Based Disease Model OA
Cited by 6
Semantic Scholar
Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe OA
Cited by 0
Semantic Scholar
Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells. OA
Cited by 7
Semantic Scholar
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions OA
Cited by 7
Semantic Scholar
Research Topics
Genetics and Neurodevelopmental Disorders
(63)
Genomic variations and chromosomal abnormalities
(46)
Autism Spectrum Disorder Research
(27)
Genomics and Rare Diseases
(25)
SARS-CoV-2 and COVID-19 Research
(24)
Affiliations
University of Siena
Synlab Czech (Czechia)
Vita-Salute San Raffaele University
University of Freiburg
Baylor College of Medicine