Kamilla Schlade‐Bartusiak

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 170 citations · Full text

Medicine, Clinical Sciences, Pathology +13

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza et al. · Brain · 2013 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

Kamilla Schlade‐Bartusiak, Lindsay Brown, Brenda Lomax et al. · American Journal of Medical Genetics Part A · 2012 · 41 citations

Life Sciences, Genetics, Molecular Genetics +17

Analysis of adaptive response to bleomycin and mitomycin C

Kamilla Schlade‐Bartusiak, Agnieszka Stembalska-Kozłowska, Monika Bernady et al. · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · 2002 · 35 citations

Medicine, Microbiology, Pharmacology +6

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Isabel Filges, Steven Sparagana, Michael A. Sargent et al. · American Journal of Medical Genetics Part A · 2014 · 34 citations

Medicine, Neurology, Neuroscience +17