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Nucleic Acids Research|May 7, 2022
TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structureBarbara Poszewiecka, Victor Murcia Pienkowski, Karol Nowosad, et al.
International Journal of Molecular Sciences|August 7, 2021
Gene Expression Profile of Human Mesenchymal Stromal Cells Exposed to Hypoxic and Pseudohypoxic Preconditioning-An Analysis by RNA SequencingKatarzyna Zielniok, Anna Burdzinska, Victor Murcia Pienkowski, et al.
Aging Cell|March 11, 2025
Telomere Position Effect-Over Long Distances Acts as a Genome-Wide Epigenetic Regulator Through a Common Alu ElementRaphaël Chevalier, Victor Murcia Pienkowski, Nicolas Jullien, et al.
Clinical Genetics|July 26, 2019
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interactionAnna Jakubiuk-Tomaszuk, Victor Murcia Pienkowski, Szymon Zietkiewicz, et al.
Genes|May 28, 2022
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L GeneAgnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, et al.
Journal of Molecular Medicine (Berlin, Germany)|January 21, 2021
Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variantAgnieszka Halas, Jolanta Fijak-Moskal, Renata Kuberska, et al.
Journal of Cancer Research and Clinical Oncology|November 1, 2025
Computational identification of cross-reactive TCR epitopes with ARDitoxVictor Murcia Pienkowski, Tamara Boschert, Piotr Skoczylas, et al.
European Journal of Medical Genetics|April 6, 2018
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15Karolina Pesz, Victor Murcia Pienkowski, Agnieszka Pollak, et al.
Journal of Human Genetics|February 8, 2018
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndromeRobert Smigiel, Anna Biernacka, Mateusz Biela, et al.
Clinical Genetics|December 15, 2018
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate geneMagdalena Krygier, Mariusz Kwarciany, Krystyna Wasilewska, et al.
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