Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Magdalena Kłaniewska"'
Autor:
Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clini
Externí odkaz:
https://doaj.org/article/07599e65658f4dd69c1574bdc7f50bd8
Autor:
Magdalena Klaniewska, Maria Jedrzejowska, Malgorzata Rydzanicz, Justyna Paprocka, Mateusz Biela, Ewelina Wolanska, Agnieszka Pollak, Emilia Debek, Maria Sasiadek, Rafal Ploski, Monika Gos, Robert Smigiel
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive PIEZO2 loss-of-function pathogenic variants are associated
Externí odkaz:
https://doaj.org/article/838c78c266784798b424fa5fe41a5610
Autor:
Magdalena Kłaniewska, Malgorzata Rydzanicz, Joanna Kosińska, Mateusz Biela, Anna Walczak, Elżbieta Szmida, Anna Rozensztrauch, Rafał Płoski, Robert Śmigiel
Publikováno v:
Pediatria Polska, Vol 96, Iss 2, Pp 148-152 (2021)
CLOVES syndrome is a rare dysmorphic syndrome with multiple defects caused by somatic activating mutations in the PIK3CA gene on chromosome 3q26.32. There are currently less than 200 individuals worldwide living with CLOVES syndrome (OMIM: 612918, OR
Externí odkaz:
https://doaj.org/article/8cbc9b869ca44d05a73d2111c9516a41
Autor:
Justyna Paprocka, Michał Hutny, Jagoda Hofman, Agnieszka Tokarska, Magdalena Kłaniewska, Krzysztof Szczałuba, Agnieszka Stembalska, Aleksandra Jezela-Stanek, Robert Śmigiel
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects. Alterations
Externí odkaz:
https://doaj.org/article/a995d5d1d254490d95477a6a48289f57
Akademický článek
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Autor:
Anna Rozensztrauch, Robert Śmigiel, Dariusz Patkowski, Sylwester Gerus, Magdalena Kłaniewska, Julia Hannah Quitmann, Michaela Dellenmark-Blom
Publikováno v:
International Journal of Environmental Research and Public Health; Volume 19; Issue 13; Pages: 8047
Aim: This study reports the reliability and validity of the Polish version of the Esophageal Atresia Quality of Life (EA-QOL) questionnaires, which were originally developed in Sweden and Germany. Methods: A total of 50 families of children (23 aged
Autor:
Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsu
Externí odkaz:
https://doaj.org/article/5c17636ad65c4694a5c87f7f90539229