Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Magdalena Kacprzak"'
Autor:
Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak, Ilona Jaszczuk
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 remains poorly chara
Externí odkaz:
https://doaj.org/article/89e75c0ed8f44727a1ba9d71946e06f6
Autor:
Katarzyna Wojciechowska, Joanna Nurzyńska-Flak, Borys Styka, Magdalena Kacprzak, Monika Lejman
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Mutations or deletions of ANKRD11 gene are responsible for the symptoms of KBG syndrome. The KBG syndrome is a rare genetic disorder which is inherited in an autosomal dominant manner. Affected patients usually have characteristic facial features, ma
Externí odkaz:
https://doaj.org/article/f4d4fa293d21459c946dbf6eefefd0b6
Publikováno v:
Studia Semiotyczne, Vol 27, Iss 1 (2020)
DOI: http://doi.org/10.26333/sts.xxvii.13 Na początku artykułu sformułowałyśmy dwa pytania: czy niewerbalne znaki dają się sprowadzić do ich werbalnych odpowiedników oraz w jaki sposób formalnie modelować niewerbalną komunikację. W li
Externí odkaz:
https://doaj.org/article/bb3b16e60cdb43bd87d7273a8170cef0
Publikováno v:
Lecture Notes in Computer Science ISBN: 9783030988494
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe88ccb4915ed201688c968902d29545
https://doi.org/10.1007/978-3-030-98850-0_4
https://doi.org/10.1007/978-3-030-98850-0_4
Publikováno v:
Studia Informatica.
In this paper, we deal with verification of multi-agent systems represented as concurrent game structures. To express properties to be verified, we use Alternating-Time Temporal Logic (ATL) formulas. We provide an implementation of symbolic model che
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d81ae81db47c5c137c708636c0a29f55
https://doi.org/10.34739/si.2021.25.01
https://doi.org/10.34739/si.2021.25.01
Autor:
Borys Styka, Magdalena Kacprzak, Monika Lejman, Joanna Nurzyńska-Flak, Katarzyna Wojciechowska
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Mutations or deletions of ANKRD11 gene are responsible for the symptoms of KBG syndrome. The KBG syndrome is a rare genetic disorder which is inherited in an autosomal dominant manner. Affected patients usually have characteristic facial features, ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8ddd1a72cae4d5051e91505e6034336
http://europepmc.org/articles/PMC8485045
http://europepmc.org/articles/PMC8485045
Publikováno v:
KR
In this paper, we introduce a new method of the satisfiability (SAT) checking for Simple-Goal Strategy Logic (SL[SG]), using symbolic Boolean model encoding and the SAT Modulo Monotonic Theories techniques, which was implemented into the tool SGSAT.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3735ae9754945a7b6769e0407df0c182
https://doi.org/10.24963/kr.2021/38
https://doi.org/10.24963/kr.2021/38
Publikováno v:
Fundamenta Informaticae. 165:345-361
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::066f9aadb219e04b792230b98f697a36
https://doi.org/10.3233/fi-2019-1789
https://doi.org/10.3233/fi-2019-1789
Autor:
Dariusz Sołdacki, Leszek Paczek, Radoslaw Zagozdzon, Magdalena Kacprzak, Agnieszka Sobczyńska-Tomaszewska, Pawel Siedlecki, Beata Wolska-Kusnierz, K. Czerska, Karina Jahnz-Różyk, Jolanta Zegarska, Ewa Więsik-Szewczyk, Ewa Hryniewiecka, Ewa Bernatowska
Publikováno v:
Journal of Clinical Medicine
Volume 10
Issue 3
Journal of Clinical Medicine, Vol 10, Iss 465, p 465 (2021)
Volume 10
Issue 3
Journal of Clinical Medicine, Vol 10, Iss 465, p 465 (2021)
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) belongs to systemic autoinflammatory diseases (AIDs). Many of these syndromes are genetically conditioned and can be inherited. Diagnosis relies on clinical symptoms and should be co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026a7b68148cd93c41fbf160f21c6ed1
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in
Autor:
Jolanta, Zegarska, Ewa, Wiesik-Szewczyk, Ewa, Hryniewiecka, Beata, Wolska-Kusnierz, Dariusz, Soldacki, Magdalena, Kacprzak, Agnieszka, Sobczynska-Tomaszewska, Kamila, Czerska, Pawel, Siedlecki, Karina, Jahnz-Rozyk, Ewa, Bernatowska, Radoslaw, Zagozdzon, Leszek, Paczek
Publikováno v:
Journal of Clinical Medicine
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) belongs to systemic autoinflammatory diseases (AIDs). Many of these syndromes are genetically conditioned and can be inherited. Diagnosis relies on clinical symptoms and should be co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::165ead3a48de4bf7f70bfef164884083
https://pubmed.ncbi.nlm.nih.gov/33530412
https://pubmed.ncbi.nlm.nih.gov/33530412