Showing results (21-30 of 41) with videos related to
Sort By:
Pageof 5
International Journal of Molecular Sciences|January 21, 2022
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter SyndromeMateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, et al.Journal of Cardiovascular Development and Disease|September 26, 2025
Cardiac Computed Tomography for the Assessment of Myocardial Bridging: A Scoping Review of the Emerging Role of Artificial Intelligence and Machine LearningAmro Abu Suleiman, Federico Russo, Luigi Della Valle, et al.American Journal of Medical Genetics. Part A|August 18, 2020
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35Joanna Walczak-Sztulpa, Anna Wawrocka, Beata Leszczynska, et al.American Journal of Medical Genetics. Part A|November 13, 2021
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridiaAnna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Socha, et al.The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|April 6, 2021
Transcriptomic profiling as biological markers of depression - A pilot study in unipolar and bipolar womenMonika Dmitrzak-Weglarz, Aleksandra Szczepankiewicz, Janusz Rybakowski, et al.Journal of Applied Genetics|August 20, 2023
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanismMateusz Dawidziuk, Aleksandra Podwysocka, Marta Jurek, et al.American Journal of Medical Genetics. Part A|July 25, 2022
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophyJoanna Walczak-Sztulpa, Anna Wawrocka, Weronika Sikora, et al.Frontiers in Genetics|July 26, 2021
Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal RegionsKinga Sałacińska, Iwona Pinkier, Lena Rutkowska, et al.Molecular Genetics and Genomics : MGG|July 13, 2022
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactionsJacob W P Potuijt, Anna Sowinska-Seidler, Ewelina Bukowska-Olech, et al.Frontiers in Molecular Biosciences|May 20, 2022
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular AspectsEwelina Bukowska-Olech, Anna Sowińska-Seidler, Dawid Larysz, et al.Pageof 5