Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Magdalena, Budișteanu"'
Autor:
Florina Rad, Emanuela Lucia Andrei, Alecsandra Irimie-Ana, Ilinca Olteanu, Magdalena Budișteanu, Ilinca Mihailescu, Elma-Maria Mînecan, Mihnea Costin Manea, Anca Coliță, Alexandra Buică
Publikováno v:
Children, Vol 10, Iss 3, p 587 (2023)
Background: Recent research still focuses on the psychological impact on siblings and the problematic relationships in families with children with chronic illnesses. Our study evaluates the dynamics in sibling relationships in families with a child d
Externí odkaz:
https://doaj.org/article/d24d627234a0404c998162baccb3b3ff
Autor:
Alexandra-Cristina Neagu, Magdalena Budișteanu, Dan-Cristian Gheorghe, Adela-Ioana Mocanu, Horia Mocanu
Publikováno v:
Medicina, Vol 58, Iss 9, p 1252 (2022)
(1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases
Externí odkaz:
https://doaj.org/article/22a03dc8a80948849e20c420e5783f83
Autor:
Anca-Lelia, Riza, Ioana, Streață, Eugenia, Roza, Magdalena, Budișteanu, Catrinel, Iliescu, Carmen, Burloiu, Mihaela-Amelia, Dobrescu, Stefania, Dorobanțu, Adina, Dragoș, Andra, Grigorescu, Tiberiu, Tătaru, Mihai, Ioana, Raluca, Teleanu
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1253
Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are associated with severe cognitive, behavioral, and developmental impairments. Genetic DEEs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f240990efeca2faa0c158db7fc87b77
Publikováno v:
Journal of Cell Identity. 1:83-90
This article explore the avenues opened by single cell genomics in medical research and clinical practice, with focus on brain and neurodevelopmental disorders such as autism.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30a4f80e5d6894873929446a3b6128ed
https://doi.org/10.47570/joci.2020.005
https://doi.org/10.47570/joci.2020.005
Akademický článek
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Akademický článek
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Autor:
Erica E. Davis, Mihaela Bălgrădean, Carmen Burloiu, Sheraz Khan, Ina Ofelia Focșa, Laurențiu C Bohîlțea, Azita Sadeghpour, Magdalena Budișteanu
Publikováno v:
Biomedical Reports. 15
Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogenous disorder that manifests as a result of primary cilia impairment. Cilia are present on most cell types, thus BBS is a multisystemic condition involving the majority of organ syst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98ebf4c95dada90d3c79d3a65fb16e56
https://doi.org/10.3892/br.2021.1479
https://doi.org/10.3892/br.2021.1479
Autor:
Ina Ofelia, Focșa, Magdalena, Budișteanu, Carmen, Burloiu, Sheraz, Khan, Azita, Sadeghpour, Laurențiu C, Bohîlțea, Erica E, Davis, Mihaela, Bălgrădean
Publikováno v:
Biomedical Reports
Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogenous disorder that manifests as a result of primary cilia impairment. Cilia are present on most cell types, thus BBS is a multisystemic condition involving the majority of organ syst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3b0d509c771407ac841f63dd0518a5b3
https://pubmed.ncbi.nlm.nih.gov/34760276
https://pubmed.ncbi.nlm.nih.gov/34760276
Publikováno v:
International Journal of Molecular Medicine
Ciliopathies comprise a group of complex disorders, with involvement of the majority of organs and systems. In total, >180 causal genes have been identified and, in addition to Mendelian inheritance, oligogenicity, genetic modifications, epistatic in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63d36f0d693645c65508ed0251efdadd
https://doi.org/10.3892/ijmm.2021.5009
https://doi.org/10.3892/ijmm.2021.5009
Akademický článek
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