Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Michał Piechota"'
Autor:
Magdalena Badura-Stronka, Katarzyna Wołyńska, Anna Winczewska-Wiktor, Justyna Marcinkowska, Dagmara Karolewska, Danuta Tomkowiak-Kędzia, Michał Piechota, Marta Przyborska, Natalia Kochalska, Barbara Steinborn
Publikováno v:
Frontiers in Neurology, Vol 14 (2024)
IntroductionTargeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity of next-generation sequencing in epilepsy patients, contemporary large-scale research focuses on f
Externí odkaz:
https://doaj.org/article/b749998778ae45ea8e53617a95e6a662
Autor:
Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygo
Externí odkaz:
https://doaj.org/article/c556ad21e95f41e689dfb1734e63e949
Autor:
Aleksandra Szczawińska-Popłonyk, Katarzyna Bernat-Sitarz, Eyal Schwartzmann, Michał Piechota, Magdalena Badura-Stronka
Publikováno v:
Allergologia et Immunopathologia. 50:1-9
Monoallelic loss-of-function (LOF) mutations in the phosphatidylinositol 3-kinase (PIK3R1) gene affecting the inter-Src homology 2 domain of the p85α regulatory subunit of phosphoinositide--3-kinase δ (PI3Kδ) cause the activated PI3K δ syndrome (
Autor:
Aleksandra, Szczawińska-Popłonyk, Katarzyna, Bernat-Sitarz, Eyal, Schwartzmann, Michał, Piechota, Magdalena, Badura-Stronka
Publikováno v:
Allergologia et immunopathologia. 50(4)
Monoallelic loss-of-function (LOF) mutations in the phosphatidylinositol 3-kinase (
Autor:
Maria Jędrzejowska, Marta Bielska, Michał Piechota, Ewa Obersztyn, Anna Jakubiuk-Tomaszuk, Aleksander Jamsheer, Pawel Gawlinski, Ewelina Bukowska-Olech
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males.
Autor:
Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Background: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ec442ef10edbac8cb898627f7e5875c
https://doi.org/10.21203/rs.3.rs-386853/v1
https://doi.org/10.21203/rs.3.rs-386853/v1
Publikováno v:
AUTOBUSY – Technika, Eksploatacja, Systemy Transportowe. 19:202-206
The task of the truck driver to transport cargo is subject to the regula-tions and safety rules. Activities performed by the driver are connect-ed with the risk of injury, complications or even death. Taking into account employee safety, one of the m
Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome
Autor:
Karolina Matuszewska, Aleksander Jamsheer, Michał Piechota, Anna Latos-Bielenska, Ewelina M. Olech
Publikováno v:
Clinical dysmorphology. 28(3)