Anna Sowińska‐Seidler

Noncoding copy-number variations are associated with congenital limb malformation

Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer et al. · Genetics in Medicine · 2017 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Aleksander Jamsheer, Anna Sowińska‐Seidler, Dorota Simon et al. · BMC Medical Genetics · 2013 · 53 citations · Full text

Life Sciences, Genetics, Pediatrics +12

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann et al. · Orphanet Journal of Rare Diseases · 2014 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations

Aleksander Jamsheer, Anna Sowińska‐Seidler, Tomasz Trzeciak et al. · Journal of Applied Genetics · 2012 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

Aleksander Jamsheer, Magdalena Socha, Anna Sowińska‐Seidler et al. · Journal of Applied Genetics · 2014 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9