List of works - Ewelina Bukowska-Olech

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2

scientific article published on 14 April 2020

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

scientific article published on 05 March 2020

Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion

scientific article published on 11 June 2020

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

scientific article published on 12 November 2020

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 01 November 2018

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

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

scientific article published on 31 March 2016

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

scientific article published on 31 July 2019

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

scientific article published on 31 October 2020

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

scientific article published on 23 October 2014

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

scientific article published in 2022

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 29 May 2018

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

scientific article published on 17 August 2020

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

scientific article published on 28 April 2022

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

scientific article published on 16 June 2020

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably