Marta Amorim
Hospital Dr. Nélio Mendonça(PT)
Publications by Year
Research Areas
Genomics and Chromatin Dynamics, Chromosomal and Genetic Variations, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → De novo mutations of SETBP1 cause Schinzel-Giedion syndrome(2010)506 cited
- → Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review(2008)26 cited
- → Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene(2015)24 cited
- → AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria(2018)8 cited
- → Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal(2023)4 cited
- → A novel variant of DeSanto-Shinawi Syndrome with joint manifestations(2022)2 cited
- → Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings(2020)2 cited
- → Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report(2016)1 cited
- A 669Kb deletion in 17q23.2, encompassing TBX2 and TBX4 genes, in a girl with a moderate developmental delay without any other pertinent abnormality(2017)
- Normosmic Hypogonadotropic Hypogonadism: An Intrafamiliar Case(2019)