Marzia Pollazzon
0000-0002-9865-0751
Publication & Citation Trends
Most Cited Works
Publications
61 total
3-M syndrome: evolution of the phenotype over time
Cited by 0
Semantic Scholar
Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf–Hirschhorn Syndrome
Cited by 0
Semantic Scholar
Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype
Cited by 0
Semantic Scholar
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3‐Related
Cited by 0
Semantic Scholar
A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature
Cited by 0
Semantic Scholar
A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency
Cited by 1
Semantic Scholar
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders OA
Cited by 4
Semantic Scholar
Sensory–Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A : A Case Report
Cited by 0
Semantic Scholar
Research Topics
Genetics and Neurodevelopmental Disorders
(14)
Genomic variations and chromosomal abnormalities
(12)
Genomics and Rare Diseases
(10)
Congenital heart defects research
(10)
Connective tissue disorders research
(8)
Frequent Co-Authors
Affiliations
University of Siena
University of Modena and Reggio Emilia
GTx (United States)
Charles University
Santa Maria Nuova Hospital