Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
2018 · Genetics in Medicine · 106 citations
https://doi.org/10.1038/gim.2017.221
M
Marzia Pollazzon
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Marzia Pollazzon is an academic researcher from Azienda Sanitaria Unità Locale di Reggio Emilia. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases. The author has an h-index of 19, co-authored 53 publications.
ORCID: 0000-0002-9865-0751Papers by this author
worksNeuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
2016 · Genetics in Medicine · 55 citations
https://doi.org/10.1038/gim.2016.176
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability
2011 · American Journal of Medical Genetics Part A · 21 citations
https://doi.org/10.1002/ajmg.a.34208
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies
2018 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 8 citations
https://doi.org/10.1186/s13052-018-0467-z
Supplementary Material for: Expanding phenotype of SYT-1 related neurodevelopmental disorder: case report and literature review.
2023 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.22691863
Additional file 7: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies
2018 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.5969944
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