Ewelina M. Olech
Poznan, WP, Poland
Last Updated: 09/26/2026
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Found 8 publications
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Journal: Clinical genetics
Published: April 23, 2019
Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome.
Journal: Clinical dysmorphology
Published: March 30, 2019
Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.
Journal: Journal of applied genetics
Published: August 27, 2018
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.
Journal: Journal of applied genetics
Published: March 14, 2018
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.
Journal: Polish journal of pathology : official journal of the Polish Society of Pathologists
Published: May 15, 2016
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
Journal: Journal of human genetics
Published: November 01, 2015
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.
Journal: Journal of human genetics
Published: July 30, 2015
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.
Journal: Journal of applied genetics
Published: August 02, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026