Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Małgorzata, Piotrowicz"'
Autor:
Agata Kucińska, Wanda Hawuła, Lena Rutkowska, Urszula Wysocka, Łukasz Kępczyński, Małgorzata Piotrowicz, Tatiana Chilarska, Nina Wieczorek-Cichecka, Katarzyna Połatyńska, Łukasz Przysło, Agnieszka Gach
Publikováno v:
Brain Sciences, Vol 14, Iss 6, p 529 (2024)
In the original publication [...]
Externí odkaz:
https://doaj.org/article/7c4b047a288746fb81c6ec2e98d34646
Autor:
Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Nina Wieczorek-Cichecka, Małgorzata Piotrowicz, Tatiana Chilarska, Aleksander Jamsheer, Paweł Matusik, Małgorzata Wilk, Elżbieta Petriczko, Maria Giżewska, Iwona Stecewicz, Mieczysław Walczak, Magda Rybak-Krzyszkowska, Andrzej Lewiński, Agnieszka Gach
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterog
Externí odkaz:
https://doaj.org/article/f46f73cf625d46ddb2885a7702d86c5c
Autor:
Agata Kucińska, Wanda Hawuła, Lena Rutkowska, Urszula Wysocka, Łukasz Kępczyński, Małgorzata Piotrowicz, Tatiana Chilarska, Nina Wieczorek-Cichecka, Katarzyna Połatyńska, Łukasz Przysło, Agnieszka Gach
Publikováno v:
Brain Sciences, Vol 14, Iss 3, p 273 (2024)
Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in social communication and repetitive behavior. Although the etiology of ASD is heterogeneous
Externí odkaz:
https://doaj.org/article/0ebf1a4289cd4ffb8a9329a9e541b01c
Autor:
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 680
22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b575ffeee0fdefc1ded58b857c397cdc
Autor:
Lena Rutkowska, Kinga Sałacińska, Dominik Salachna, Paweł Matusik, Iwona Pinkier, Łukasz Kępczyński, Małgorzata Piotrowicz, Ewa Starostecka, Andrzej Lewiński, Agnieszka Gach
Publikováno v:
Genes; Volume 13; Issue 6; Pages: 999
The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and premature CVD. The well-k
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c798012c7d4f62f77c32e7302d97d69
https://doi.org/10.3390/genes13060999
https://doi.org/10.3390/genes13060999
Autor:
Dorota Szałowska-Woźniak, Krzysztof Zeman, Paweł Jarosz, Jarosław Paśnik, Marcin Machnia, Agnieszka Cywińska-Bernas, Eliza Pilarz, Agnieszka Moll-Maryńczak, Małgorzata Piotrowicz
Publikováno v:
Family Medicine & Primary Care Review. 20:117-123
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5efb21cff6b7b1ecd8b3c1c3e8f24b47
https://doi.org/10.5114/fmpcr.2018.76453
https://doi.org/10.5114/fmpcr.2018.76453
Autor:
Marta Owczarek-Lipska, Aleksander Jamsheer, Fanny Dallèves, Erik Riesch, Lucjusz Jakubowski, Anna Sowińska-Seidler, John Neidhardt, Christopher B. Jackson, Carolina Courage, Johannes R. Lemke, Małgorzata Piotrowicz
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 179(12)
Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de58c889fd8f16b90685d58a9be3d2c5
https://pubmed.ncbi.nlm.nih.gov/31512363
https://pubmed.ncbi.nlm.nih.gov/31512363
Autor:
Agnieszka Stembalska, Małgorzata Piotrowicz, Maria M. Sąsiadek, Robert Śmigiel, Lucjusz Jakubowski, Magdalena Cabała, Izabela Łaczmańska
Publikováno v:
Pediatria Polska. 90:181-189
Introduction Deletion of chromosome 22q11.2, which causes DiGeorge syndrome, is one of the most frequently diagnosed microdeletion syndromes in the human. It is characterised by a wide variety of symptoms. The main symptoms consist of congenital hear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::960609f4622542a195bcedf4664d6bd4
https://doi.org/10.1016/j.pepo.2015.02.004
https://doi.org/10.1016/j.pepo.2015.02.004
Publikováno v:
Procedia Engineering. 108:154-161
In EN 13670:2009 standard: Execution of concrete structures there are general rules of moisture curing of concrete in structures. In the standard 4 classes of concrete curing are described. Determination of curing class depends on required level of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3624aa9123b1bbf6acf433e97a508c50
Autor:
Iwona Kochanowska, Eric Boerwinkle, Barbara Steinborn, Beata Nowakowska, James R. Lupski, Tomasz Gambin, Antoni Pyrkosz, Mateusz Dawidziuk, Marta Jurek, Dorota Hoffman-Zacharska, Alicja Goszczańska-Ciuchta, Wojciech Wiszniewski, Ewa Jamroz, Jerzy Bal, Ender Karaca, Barbara Gurda, Tamar Harel, Piotr S. Iwanowski, Małgorzata Piotrowicz, Dorota Antczak-Marach, Natalia Bezniakow, Anna Jakubiuk-Tomaszuk, Dorota Gieruszczak-Białek, Iwona Terczyńska, Shalini N. Jhangiani, Elżbieta Szczepanik, Maria M. Sasiadek, Ewa Obersztyn, Pawel Wlasienko, Zeynep Coban Akdemir, Monika Bekiesińska-Figatowska, Małgorzata Kruk, Jennifer Castaneda, Mariola Rudzka-Dybała, Pawel Gawlinski, Katarzyna Sobecka, Richard A. Gibbs
Publikováno v:
European journal of human genetics : EJHG. 26(8)
Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic archit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c469257bf39045e4265ca2c81434df7b
https://pubmed.ncbi.nlm.nih.gov/29706646
https://pubmed.ncbi.nlm.nih.gov/29706646