R M Winter
Norwegian University of Science and Technology(NO)
Publications by Year
Research Areas
Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, Prenatal Screening and Diagnostics, Congenital Anomalies and Fetal Surgery, Connective tissue disorders research
Most-Cited Works
- → Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.(1997)1,194 cited
- → PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome(1999)610 cited
- → Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.(1998)234 cited
- → Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract(1997)213 cited
- → The London Dysmorphology Database.(1987)164 cited
- → A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation(1985)142 cited
- → Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome(1995)142 cited
- → Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene(2000)137 cited
- → Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs(2000)129 cited
- → European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities(2005)125 cited