Magdalena Badura‐Stronka
Poznan University of Medical Sciences(PL)University of Life Sciences in Poznań(PL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital gastrointestinal and neural anomalies, Urological Disorders and Treatments
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome(2015)119 cited
- → Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care(2018)105 cited
- → Parental age as a risk factor for isolated congenital malformations in a Polish population(2008)79 cited
- → A novel nonsense mutation in CUL4B gene in three brothers with X‐linked mental retardation syndrome(2009)54 cited
- → Novel missense mutations in the ubiquitination‐related gene UBE2A cause a recognizable X‐linked mental retardation syndrome(2010)54 cited