Verena Matejas
Friedrich-Alexander-Universität Erlangen-Nürnberg(DE)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Pulmonary Hypertension Research and Treatments, Congenital Heart Disease Studies, Renal Diseases and Glomerulopathies, Porphyrin Metabolism and Disorders
Most-Cited Works
- → COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness(2011)394 cited
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders(2006)210 cited
- → Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma(2010)200 cited
- → SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome(2007)134 cited
- → Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)(2010)87 cited
- → Ophthalmological Aspects of Pierson Syndrome(2008)80 cited
- → Variable phenotype of Pierson syndrome(2008)76 cited
- → Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome(2007)66 cited
- → A milder variant of Pierson syndrome(2007)64 cited