Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Magdalena Budișteanu"'
Autor:
Sorina-Mihaela Papuc, Adelina Glangher, Alina Erbescu, Oana Tarta Arsene, Aurora Arghir, Magdalena Budisteanu
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)
Abstract Background The Coiled-Coil Domain-Containing Protein 88 A (CCDC88A) gene encodes the actin-binding protein Girdin, which plays important roles in maintaining the actin cytoskeleton and in cell migration and was recently associated with a spe
Externí odkaz:
https://doaj.org/article/49a781ad69ec41869fe96efee47f0355
Autor:
Ina Ofelia FOCSA, Magdalena BUDISTEANU, Cristina STOICA, Florina NEDELEA, Claudia JURCA, Lavinia CABA, Lacramioara BUTNARIU, Monica PANZARU, Cristina RUSU, Mihaela BALGRADEAN
Publikováno v:
Modern Medicine, Vol 29, Iss 1, Pp 37-42 (2022)
Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning diff
Externí odkaz:
https://doaj.org/article/4183892bc94249f2ae6e415605038429
Autor:
Martina Micai, Francesca Fulceri, Tommaso Salvitti, Giovanna Romano, Luise Poustka, Robert Diehm, Georgi Iskrov, Rumen Stefanov, Quentin Guillon, Bernadette Rogé, Anthony Staines, Mary Rose Sweeney, Andrew Martin Boilson, Thora Leósdóttir, Evald Saemundsen, Irma Moilanen, Hanna Ebeling, Anneli Yliherva, Mika Gissler, Tarja Parviainen, Pekka Tani, Rafal Kawa, Eva Pisula, Astrid Vicente, Célia Rasga, Magdalena Budişteanu, Ian Dale, Carol Povey, Noelia Flores, Cristina Jenaro, Maria Luisa Monroy, Patricia García Primo, Tony Charman, Susanne Cramer, Christine Kloster Warberg, Ricardo Canal-Bedia, Manuel Posada, Diana Schendel, Maria Luisa Scattoni
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism
Externí odkaz:
https://doaj.org/article/c7279ad1937d410b87d2dfed2247b63a
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