Zobrazeno 1 - 10
of 3 134
pro vyhledávání: '"Maver, A."'
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Autor:
Saša Anžej Doma, Nika Kraljić, Aleša Kristan, Nataša Debeljak, Aleš Maver, Tadej Pajič, Irena Preložnik Zupan
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundCongenital erythrocytosis (CE) is increasingly recognized as the cause of erythrocytosis in patients in whom polycythemia vera and secondary acquired causes have been excluded. The aim of our study was to determine possible genetic backgrou
Externí odkaz:
https://doaj.org/article/c87e5cdebb334e71a89c41aff22e607a
Autor:
Zidarič, Tanja, Gradišnik, Lidija, Frangež, Tjaša, Šoštarič, Mojca, Korunič, Eva, Maver, Tina, Maver, Uroš
Publikováno v:
In International Journal of Biological Macromolecules June 2024 269 Part 1
Publikováno v:
Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 59-64 (2024)
Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of
Externí odkaz:
https://doaj.org/article/5eba4a35561d4ef78f233f32d6f62573
Publikováno v:
Ecotoxicology and Environmental Safety, Vol 279, Iss , Pp 116518- (2024)
Microplastics (MP) can influence a plethora of fungal species within the rhizosphere. Nevertheless, there are few studies on the direct impacts of MPs on soil fungi and their intricate interplay with plants. Here, we investigated the impact of polyet
Externí odkaz:
https://doaj.org/article/b025e3a0562245828f4bd57b10187815
Autor:
Igor Maver
Publikováno v:
Acta Neophilologica, Vol 57, Iss 1 (2024)
Margaret Atwood’s provocative book of non-fiction contains many literary references, which help to effectively highlight her points about such a topical matter as debt, debt as a philosophical, politico-economic, religious, and historical issue ove
Externí odkaz:
https://doaj.org/article/cf4396aaca6d4b35807aebfbe96bf00f
Autor:
Metelko, Zala, Maver, Jasna
Publikováno v:
Journal of Documentation, 2023, Vol. 79, Issue 7, pp. 72-94.
Externí odkaz:
http://www.emeraldinsight.com/doi/10.1108/JD-07-2022-0162
Autor:
Šuligoj, Andraž, Povirk, Nejc, Maver, Ksenija, Mavrič, Andraž, Lavrenčič Štangar, Urška, Surca, Angelja Kjara
Publikováno v:
In Journal of Environmental Chemical Engineering October 2024 12(5)
Autor:
Ana Peterlin, Sara Bertok, Karin Writzl, Luca Lovrečić, Aleš Maver, Borut Peterlin, Maruša Debeljak, Gregor Nosan
Publikováno v:
Life, Vol 14, Iss 9, p 1118 (2024)
Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) as diagno
Externí odkaz:
https://doaj.org/article/c8de490009d64f8a8114c8222891020a
Autor:
Maja Sever, Dominik Škrinjar, Tina Maver, Monika Belak, Franc Zupanič, Ivan Anžel, Tanja Zidarič
Publikováno v:
Biomedicines, Vol 12, Iss 9, p 2028 (2024)
Skin bioprinting has the potential to revolutionize treatment approaches for injuries and surgical procedures, while also providing a valuable platform for assessing and screening cosmetic and pharmaceutical products. This technology offers key advan
Externí odkaz:
https://doaj.org/article/4efb5d71696643c0b8fbe87ed4de0c3a