Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Beata Lipska"'
Autor:
Dominika Kuleszo, Beata Lipska-Ziętkiewicz, Magdalena Koczkowska, Krzysztof Zakrzewski, Wiesława Grajkowska, Marcin Roszkowski, Bożenna Dembowska-Bagińska, Katarzyna Czarnota, Elżbieta Adamkiewicz-Drożyńska, Ewa Iżycka-Świeszewska
Publikováno v:
Folia Neuropathologica, Vol 57, Iss 3, Pp 227-238 (2019)
Externí odkaz:
https://doaj.org/article/15e1cb781e0342b0ab4762d01c2e4db5
Akademický článek
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Publikováno v:
Polish Annals of Medicine. 30:15-24
IntroductionIndividuals with monoallelic pathogenic variants in BRCA1/BRCA2 genes are at an increased risk of developing breast or ovarian cancer. The results of genetic tests may present a stressor related to the fear associated with the impact of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85f6de3e4674ede7f3ec429e85489264
https://doi.org/10.29089/paom/151573
https://doi.org/10.29089/paom/151573
Autor:
Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, Hansjorg Rothe, Daniel P. Gale, Marina Aksenova, Agne Cerkauskaite, Olga Bielska, Beata Lipska-Zietkiewicz, Joel T. Gibson
Publikováno v:
Clinical Journal of the American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6e070486ab14d3dc8751c50e8286ba
https://doi.org/10.2215/cjn.03120322
https://doi.org/10.2215/cjn.03120322
Autor:
Patrycja, Daca-Roszak, Joanna, Fiedorowicz, Maciej, Jankowski, Marzanna, Ciesielka, Grzegorz, Teresiński, Beata, Lipska-Zietkiewicz, Ewa, Zietkiewicz, Tomasz, Grzybowski, Katarzyna, Skonieczna
Publikováno v:
Journal of Applied Genetics; 20240101, Issue: Preprints p1-5, 5p
Autor:
Liangjian, Lu, Yok-Chin, Yap, Duc Quang, Nguyen, Yiong-Huak, Chan, Jun-Li, Ng, Yao-Chun, Zhang, Chang-Yien, Chan, Mya, Than, Isaac Desheng, Liu, Sadaf, Asim, Khemchand, Moorani, Bilquis, Naeem, Iftikhar, Ijaz, Thi Minh Tan, Nguyen, Ming-Lee, Lee, Caroline, Eng, Syed Saimul, Huque, Yong-Hong, Ng, Indra, Ganesan, Sing-Ming, Chao, Siew-Le, Chong, Puay-Hoon, Tan, Alwin, Loh, Sonia, Davila, Vikrant, Kumar, Joanna Zhi-Jie, Ling, Rajesh Babu, Moorakonda, Karen Mei-Ling, Tan, Alvin Yu-Jin, Ng, Kok-Siong, Poon, Franz, Schaefer, Beata, Lipska-Zietkiewicz, Hui-Kim, Yap, Kar-Hui, Ng
Publikováno v:
Clinical geneticsREFERENCES. 101(5-6)
Multinational studies have reported monogenic etiologies in 25%-30% of children with steroid-resistant nephrotic syndrome. Such large studies are lacking in Asia. We established Deciphering Diversities: Renal Asian Genetics Network (DRAGoN) and aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8e066c7c89daac4804864b4dad8fe2
https://pubmed.ncbi.nlm.nih.gov/35064937
https://pubmed.ncbi.nlm.nih.gov/35064937
Autor:
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Publikováno v:
Genes, Vol 12, Iss 1257, p 1257 (2021)
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::b1614593f5219aa4700ebe069032ed0f
https://www.mdpi.com/2073-4425/12/8/1257
https://www.mdpi.com/2073-4425/12/8/1257
Autor:
Beata, Lipska-zietkiewicz S., Magdalena, Koczkowska, Craig, Wong, Aysun, Bayazit K., Ali, Duzova, Nur, Canpolat, Ipek, Kaplan Bulut
WOS: 000408418900073 …
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______9491::9c447b570adfa3fab696fcf83c3632e3
https://hdl.handle.net/20.500.12605/9674
https://hdl.handle.net/20.500.12605/9674
Autor:
Ałła Graban, Beata Lipska, Magdalena Restel, Anna Bochyńska, Waldemar Lechowicz, Danuta Ryglewicz, Wanda Lipczyńska-Łojkowska, Magdalena Gugała-Iwaniuk
Publikováno v:
Seizure. 21(4)
Purpose To investigate the influence of vitamin B supplementation on the plasma total homocysteine (p-tHcy), serum folate (s-FA), serum B12 (s-B12), and clinical state of patients with chronic epilepsy. Methods Beck Depression Inventory (BDI) scores
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9a1fda03d8c2395bef6dbafe3cf4a0b
https://pubmed.ncbi.nlm.nih.gov/22360846
https://pubmed.ncbi.nlm.nih.gov/22360846
Autor:
Halina, Sienkiewicz-Jarosz, Maria, Gałecka-Wolska, Andrzej, Bidziński, Danuta, Turzyńska, Alicja, Sobolewska, Beata, Lipska, Adam, Płaźnik, Danuta, Ryglewicz
Publikováno v:
Neurologia i neurochirurgia polska. 43(2)
Previous studies suggested that biochemical markers of brain damage could act as prognostic factors in ischaemic stroke. The aim of the present study was to assess predictive value of the selected biomarkers S100B protein, neuron-specific enolase (NS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::af3ed9363e7e78c835d6b0f09ac38d3e
https://pubmed.ncbi.nlm.nih.gov/19484689
https://pubmed.ncbi.nlm.nih.gov/19484689