Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Małgorzata Kruk"'
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
Autor:
Elżbieta, Szczepanik, Iwona, Terczyńska, Małgorzata, Kruk, Agata, Lipiec, Ewa, Dudko, Jolanta, Tryfon, Marta, Jurek, Dorota, Hoffman-Zacharska
Publikováno v:
Developmental period medicine. 19(4)
To present the molecular and clinical characteristics of three children with glucose deficiency syndrome, an inborn rare metabolic disease, caused by mutations in the SLC2A1 gene.The investigation was carried out in three children: two girls and one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d56dca0e9af2db209b9fc799c08f9f74
https://pubmed.ncbi.nlm.nih.gov/26982753
https://pubmed.ncbi.nlm.nih.gov/26982753
Publikováno v:
Przeglad lekarski. 63(7)
Acne rosacea is a common skin disorder which affects adults, usually women. Erythema, papules, pustules and telangiectases, the main clinical manifestations of the disease are located on the face. Currently opinions dealing with pathogenesis and clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::041750b6714891fe19e3cf80aefedbf0
https://pubmed.ncbi.nlm.nih.gov/17203809
https://pubmed.ncbi.nlm.nih.gov/17203809