المؤلفون: Elena-Silvia Shelby, Relu Cocos, Madalina Cristina Leanca, Andrada Mirea, Diana Barca

المصدر: Romanian Journal of Pediatrics, Vol 71, Iss 1, Pp 39-46 (2022)

مصطلحات موضوعية: joubert syndrome type 17, c5orf42, compound heterozygous, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://rjp.com.ro/articles/2022.1/RJP_2022_1_Art-08.pdfTest; https://doaj.org/toc/1454-0398Test; https://doaj.org/toc/2069-6175Test

الوصول الحر: https://doaj.org/article/07627fab7021484c96202099da0625f9Test

المؤلفون: Diana Barca, Nina Butoianu, Oana Tarta-Arsene, Magdalena Budisteanu, Sanda Magureanu, Dana Craiu

المصدر: Romanian Journal of Pediatrics, Vol 63, Iss 4, Pp 369-374 (2014)

مصطلحات موضوعية: developmental delay, mental retardation, cytogenetic, metabolic, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2014-Nr.4/EN/RJP_2014_4_EN_Art-03.pdfTest; https://doaj.org/toc/1454-0398Test; https://doaj.org/toc/2069-6175Test

الوصول الحر: https://doaj.org/article/11fb86c532be426fac9edad0e6eb408bTest

المؤلفون: Oana Tarta-Arsene, Diana Barca, Carmen Burloiu, Dana Craiu, Daniela Stoian, Madalina Leanca, Sanda Magureanu

المصدر: Romanian Journal of Neurology, Vol 12, Iss 2, Pp 63-69 (2013)

مصطلحات موضوعية: seizures, neurofi bromatosis type 1, brain damage, Medicine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://rjn.com.ro/articles/2013.2/RJN_2013_2_Art-03.pdfTest; https://doaj.org/toc/1843-8148Test; https://doaj.org/toc/2069-6094Test

الوصول الحر: https://doaj.org/article/1234ac61a64749fda5a9823b5e22da3eTest

المؤلفون: Diana Bârcă, Nina Butoianu, Oana Tarta-Arsene, Magdalena Budişteanu, Sanda Măgureanu, Dana Craiu

المصدر: Romanian Journal of Pediatrics, Vol 63, Iss 4, Pp 437-442 (2014)

مصطلحات موضوعية: tulburare de dezvoltare, retard mintal, citogenetică, metabolic, Medicine, Pediatrics, RJ1-570

العلاقة: https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2014-Nr.4/RO/RJP_2014_4_RO_Art-03.pdfTest; https://doaj.org/toc/1454-0398Test; https://doaj.org/toc/2069-6175Test; https://doaj.org/article/f078f54a71df45fe91542678dcf07379Test

الإتاحة: https://doi.org/10.37897/RJP.2014.4.16Test
https://doaj.org/article/f078f54a71df45fe91542678dcf07379Test

المؤلفون: Andra Caragheorgheopol, Corina Chirita, Monica Dragomir, Camelia Procopiuc, Diana Barca, Iuliana Gherlan, Cristina Dumitrescu

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Medicine, Neurofibromatosis, business, medicine.disease, Dermatology, Spectrum (topology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7d4bcd75039d6b350002f44858779738Test
https://doi.org/10.1530/endoabs.41.ep852Test

المؤلفون: Denis George, Duca, Dana, Craiu, Monica, Boer, Sorina Mihaela, Chirieac, Aurora, Arghir, Andreea, Tutulan-Cunita, Diana, Barca, Catrinel, Iliescu, Agripina, Lungeanu, Sanda, Magureanu, Magdalena, Budisteanu

المصدر: Maedica. 8(4)

مصطلحات موضوعية: Original Papers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::519322500f958790879037f265c55639Test
https://pubmed.ncbi.nlm.nih.gov/24790661Test

المؤلفون: May, Liliana Gressler, Passos, Sheila Pestana, Capelli, Diana Barca, Oezcan, Mutlu, Bottino, Marco Antonio, Valandro, Luiz Felipe

المساهمون: Universidade Estadual Paulista (UNESP)

مصطلحات موضوعية: tribochemical treatment, coupling agents, bonding, adhesion, resin cement, Y-TZP

وصف الملف: 69-74

العلاقة: Journal of Biomedical Materials Research Part B: Applied Biomaterials; 3.373; 0,715; http://dx.doi.org/10.1002/jbm.b.31684Test; Journal of Biomedical Materials Research Part B-applied Biomaterials. Hoboken: Wiley-liss, v. 95B, n. 1, p. 69-74, 2010.; http://hdl.handle.net/11449/22936Test; WOS:000281655900009; 9234456003563666

الإتاحة: https://doi.org/10.1002/jbm.b.31684Test
http://hdl.handle.net/11449/22936Test

المؤلفون: Mutlu Özcan, Diana Barca Capelli, Sheila Pestana Passos, Luiz Felipe Valandro, Liliana Gressler May, Marco Antonio Bottino

المصدر: Journal of biomedical materials research. Part B, Applied biomaterials. 95(1)

مصطلحات موضوعية: Materials science, Biomedical Engineering, chemistry.chemical_element, engineering.material, Biomaterials, chemistry.chemical_compound, Organophosphorus Compounds, Coated Materials, Biocompatible, Materials Testing, Yttrium, Ceramic, Composite material, Phosphoric acid, Acrylic resin, Primer (paint), Bond strength, Dental Bonding, Adhesion, Silicon Dioxide, Resin Cements, chemistry, Distilled water, visual_art, engineering, visual_art.visual_art_medium, Methacrylates, Zirconium

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d19366a1e427f0e4ce2de798624b4e5dTest
https://pubmed.ncbi.nlm.nih.gov/20690176Test

المؤلفون: Rik Hendrickx, Tiina Talvik, Anna-Elina Lehesjoki, Laura Ortega, Federico Zara, Tarja Linnankivi, Uluç Yiş, Barca Diana, Inga Talvik, José M. Serratosa, Johannes R. Lemke, Yvonne G. Weber, Ulrich Stephani, Petia Dimova, Andrey Kirov, Eric LeGuern, Renzo Guerrini, Cihan Meral, Holger Lerche, Peter de Witte, Sarah Weckhuysen, Christel Depienne, Helle Hjalgrim, Nina Barišić, Beatriz G. Giráldez, Katalin Sterbova, Angela Robbiano, Mutluay Arslan, Vanja Ivanović, Alexander D. Crawford, Camila V. Esguerra, Stéphanie Baulac, Pasquale Striano, Kaja Kristine Selmer, Rosa Guerrero-López, Philip Holmgren, Gerhard Kluger, Angela Kecskés, Silke Appenzeller, Vladimir Komarek, Aleksandra Siekierska, Carla Marini, Bobby P. C. Koeleman, Padhraig Gormley, Budisteanu Magdalena, Manuela Pendiziwiat, Peter De Jonghe, Eva H. Brilstra, Albena Todorova, Johanna A. Jaehn, Oana Tarta Arsene, Tatiana Afrikanova, Arvid Suls, Rikke S. Møller, Dorota Hoffman-Zacharska, Aarno Palotie, Tania Djémié, Dana Craiu, Hande Caglayan, Elżbieta Szczepanik, Gherghiceanu Rodica, Sarah von Spiczak, Felix Rosenow, Ingo Helbig, Hiltrud Muhle, Gregor Kuhlenbäumer, Catrinel Iliescu

المساهمون: EuroEPINOMICS RES Consortium, ESF, European Science Foundation, WT089062, Wellcome Trust, 098051, Wellcome Trust, 261123, EC, European Commission, DFG, Deutsche Forschungsgemeinschaft [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Chemical Biology (Crawford Group) [research center], Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Ulrich, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Tarta Arsene, Oana, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P, Kirov, Andrey V, Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja

المصدر: Suls, A, Jaehn, J A, Kecskés, A, Weber, Y, Weckhuysen, S, Craiu, D C, Siekierska, A, Djémié, T, Afrikanova, T, Gormley, P, von Spiczak, S, Kluger, G, Iliescu, C M, Talvik, T, Talvik, I, Meral, C, Caglayan, H S, Giraldez, B G, Serratosa, J, Lemke, J R, Hoffman-Zacharska, D, Szczepanik, E, Barisic, N, Komarek, V, Hjalgrim, H, Møller, R S, Linnankivi, T, Dimova, P, Striano, P, Zara, F, Marini, C, Guerrini, R, Depienne, C, Baulac, S, Kuhlenbäumer, G, Crawford, A D, Lehesjoki, A-E, de Witte, P A M, Palotie, A, Lerche, H, Esguerra, C V, De Jonghe, P, Helbig, I & EuroEPINOMICS RES Consortium 2013, ' De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome ', American Journal of Human Genetics, vol. 93, no. 5, pp. 967-975 . https://doi.org/10.1016/j.ajhg.2013.09.017Test
The American journal of human genetics
American Journal of Human Genetics, 93(5), 967-975. (2013).
ResearcherID
The American Journal of Human Genetics; Vol 93

مصطلحات موضوعية: Male, Proband, Epilepsies, Myoclonic, Haploinsufficiency, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Intellectual disability, Genetics(clinical), Exome, Cognitive decline, Child, Multidisciplinary, general & others [D99] [Human health sciences], Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Mutation, 3. Good health, DNA-Binding Proteins, Phenotype, Gene Knockdown Techniques, Larva, Female, Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Biology, Seizures, Febrile, Young Adult, 03 medical and health sciences, Dravet syndrome, Report, Intellectual Disability, medicine, Animals, Humans, 030304 developmental biology, Danio rerio, Dravet Syndrome, DNA fragment, medicine.disease, DNA binding protein, NAV1.1 Voltage-Gated Sodium Channel, CHD2, Immunology, Human medicine, Cognition Disorders, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0e22ad1eaf15b4fd1ad1275cf9dca5Test
https://doi.org/10.1016/j.ajhg.2013.09.017Test