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Orphanet Journal of Rare Diseases|November 22, 2025
Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipubertyAnna Szoszkiewicz, Ewelina Bukowska-Olech, Paweł Kurzawa, et al.
Birth Defects Research|June 13, 2020
Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletionEwelina Bukowska-Olech, Monika Dmitrzak-Węglarz, Dawid Larysz, et al.
Japanese Journal of Ophthalmology|February 5, 2020
Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?Anna Wawrocka, Joanna Walczak-Sztulpa, Ewelina Bukowska-Olech, et al.
Orphanet Journal of Rare Diseases|June 27, 2021
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 geneEwelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, et al.
Frontiers in Genetics|November 16, 2020
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two SiblingsAnna Sowińska-Seidler, Paweł Sztromwasser, Katarzyna Zawadzka, et al.
Frontiers in Genetics|December 27, 2021
Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic StrategiesEwelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktor Czech, et al.
European Journal of Pediatrics|December 23, 2021
The pediatric common variable immunodeficiency - from genetics to therapy: a reviewAleksandra Szczawinska-Poplonyk, Eyal Schwartzmann, Ewelina Bukowska-Olech, et al.
Scientific Reports|March 7, 2020
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosisEwelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, et al.
American Journal of Medical Genetics. Part A|November 1, 2022
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencingBarbara Biedziak, Justyna Dąbrowska, Anna Szponar-Żurowska, et al.
Frontiers in Genetics|December 2, 2020
Targeted Next-Generation Sequencing in the Diagnosis of Facial DysostosesEwelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, et al.
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