Marie Trková

Axenfeld-Rieger syndrome: more than meets the eye

Linda M. Reis, Mohit Maheshwari, Jenina Capasso et al. · Journal of Medical Genetics · 2022 · 67 citations · Full text

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

Petra Lišková, Cerys J. Evans, Alice E. Davidson et al. · European Journal of Human Genetics · 2015 · 34 citations · Full text

Ocular Disease, Mendelian Disorder, Ophthalmology +8

<i>STRC</i> Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

Simona Poisson Marková, Dana Šafka Brožková, Petra Laššuthová et al. · Genetic Testing and Molecular Biomarkers · 2018 · 25 citations

ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker–Warburg syndrome

Marie Trková, Vera Krutilkova, D. Smetanová et al. · European Journal of Medical Genetics · 2015 · 15 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +10