Krzysztof Szczałuba

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i>

Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2010 · 99 citations

Life Sciences, Genetics, Molecular Genetics +17

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak et al. · The American Journal of Human Genetics · 2018 · 85 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Genotype–phenotype correlation in <i>CC2D2A</i>-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Ruxandra Bachmann‐Gagescu, Gisele E. Ishak, Jennifer C. Dempsey et al. · Journal of Medical Genetics · 2012 · 70 citations

Life Sciences, Genetics, Molecular Genetics +15

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Magdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska et al. · Journal of Applied Genetics · 2013 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17