Maria Grazia Pomponi
0000-0002-0417-9939
Publication & Citation Trends
Publications
0 total
EC_italynch: mainstreaming genetic testing for lynch syndrome in patients with endometrial cancer.
Cited by 0
Semantic Scholar
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia OA
Cited by 1
Semantic Scholar
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype
Cited by 0
Semantic Scholar
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy OA
Cited by 3
Semantic Scholar
Ataxia‐Telangiectasia Presenting as Tremor‐Predominant Syndrome in an Adult Patient without Ataxia and Telangiectasias
Cited by 0
Semantic Scholar
Are all mismatch repair deficient endometrial cancers created equal? A large, retrospective, tertiary center experience.
Cited by 6
Semantic Scholar
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
Cited by 14
Semantic Scholar
Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort OA
Cited by 0
Semantic Scholar
Research Topics
Genetics and Neurodevelopmental Disorders
(19)
Prenatal Screening and Diagnostics
(14)
Genomic variations and chromosomal abnormalities
(14)
Genetic Neurodegenerative Diseases
(13)
Autism Spectrum Disorder Research
(8)
Affiliations
Università Cattolica del Sacro Cuore
University of California, Santa Cruz
Azienda Ospedaliera San Giovanni Addolorata
Agostino Gemelli University Polyclinic
University of Catania