Ewelina Bukowska‐Olech

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska‐Olech et al. · Genes · 2021 · 27 citations · Full text

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency

Aleksander Jamsheer, Ewelina Bukowska‐Olech, Marek Niedziela et al. · Journal of Human Genetics · 2016 · 22 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +11

Functional analysis of novel <i>RUNX2</i> mutations identified in patients with cleidocranial dysplasia

Ewa Hordyjewska‐Kowalczyk, Anna Sowińska‐Seidler, Ewelina Bukowska‐Olech et al. · Clinical Genetics · 2019 · 22 citations

Cleidocranial Dysplasia, Developmental Biology, Bone Morphogenic Protein +15

Transcriptomic profiling as biological markers of depression – A pilot study in unipolar and bipolar women

Monika Dmitrzak‐Węglarz, Aleksandra Szczepankiewicz, Janusz Rybakowski et al. · The World Journal of Biological Psychiatry · 2021 · 22 citations

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

Aleksander Jamsheer, Anna Sowińska‐Seidler, Ewelina Bukowska‐Olech et al. · Journal of Human Genetics · 2016 · 21 citations

Developmental Biology, Mendelian Disorder, Short Stature +10