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Publikationer (hämtat ur Lunds universitets publikationsdatabas)
- Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
- No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
- No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
- Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
- Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
- Friedreich ataxia in patients with FXN p.R165P point mutation.
- Relation between smoking history and gene expression profiles in lung adenocarcinomas
- Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients
- Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
- HIF1 alpha isoforms in benign and malignant prostate tissue and their correlation to neuroendocrine differentiation
- How to Handle Genetic Information: A Comparison of Attitudes among Patients and the General Population
- Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
- dup(19)(q12q13.2): Array-based Genotype-Phenotype Correlation of a New Possibly Obesity-related Syndrome.
- Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
- CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
- Characterization Of Non-Small Cell Lung Cancer Using Tiling Resolution Bacterial Artificial Chromosome Microarrays
- Delection of the SCN gene cluster on 2q24.4 is associated with severe epilepsy an array-based genotype-phenotype correlation and a comprehensive review of previously published area
- Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
- Female haemophilia A caused by skewed X inactivation