المؤلفون: Borković Milan, Čuturilo Goran, Cerovac Nataša

المصدر: Vojnosanitetski Pregled, Vol 79, Iss 2, Pp 196-200 (2022)

مصطلحات موضوعية: chromosome aberrations, clinical medicine, cognitive dysfunction, drug resistant epilepsy, ring chromosome 20 syndrome, drug therapy, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0042-8450; https://doaj.org/toc/2406-0720

URL الوصول: https://doaj.org/article/fe7ac8d9c6a04735b2e939635c61021a

المؤلفون: Donald Gordon, Allison Watson, Archana Desurkar, Laura Cowley, Thomas F. Hiemstra

المصدر: Epilepsia Open, Vol 5, Iss 2, Pp 295-300 (2020)

مصطلحات موضوعية: co‐production, KDT, ketogenic dietary therapy, refractory epilepsy, ring chromosome 20 syndrome r(20), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/c9e866019d3a4b18b77ea3074a876c7d

المؤلفون: Angela Peron, Ilaria Catusi, Maria Paola Recalcati, Luciano Calzari, Lidia Larizza, Aglaia Vignoli, Maria Paola Canevini

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: ring chromosome 20 syndrome r(20), ring chromosomes, mosaicism, cytogenetics, karyotype, seizures, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.613035/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/f3c3bc7fb17743c0856e38398ae49264

المؤلفون: Gordon, Donald, Watson, Allison, Desurkar, Archana, Cowley, Laura, Hiemstra, Thomas F

مصطلحات موضوعية: KDT, co‐production, ketogenic dietary therapy, refractory epilepsy, ring chromosome 20 syndrome r(20)

وصف الملف: Electronic-eCollection; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/303822

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/303822
https://doi.org/10.17863/CAM.50904

المؤلفون: Akihiko Ishiyama, Eiji Nakagawa, Eri Takeshita, Hiroya Ono, Kenji Sugai, Masayuki Sasaki, Takashi Saito, Yuko Shimizu-Motohashi, 中川 栄二, 佐々木 征行, 小野 博也, 斎藤 貴志, 本橋 裕子, 石山 昭彦, 竹下 絵里, 須貝 研司

المصدر: てんかん研究 / Journal of the Japan Epilepsy Society. 2020, 38(1):19

المؤلفون: E. Zambrelli, L. Nobili, G. Didato, M. Mastrangelo, A. Vignoli, K. Turner, M.P. Canevini

المساهمون: E. Zambrelli, A. Vignoli, L. Nobili, G. Didato, M. Mastrangelo, K. Turner, M.P. Canevini

مصطلحات موضوعية: Electroencephalography, Epilepsy, Ring chromosome 20 syndrome, Sleep, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/23731915; volume:28; issue:1; firstpage:47; lastpage:53; numberofpages:7; journal:FUNCTIONAL NEUROLOGY; http://hdl.handle.net/2434/223766; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84881225012

الاتاحة: http://hdl.handle.net/2434/223766
https://doi.org/10.11138/FNeur/2013.28.1.047

المؤلفون: Thomas F. Hiemstra, Donald Gordon, Archana Desurkar, Laura Cowley, Allison Watson

المساهمون: Cowley, Laura [0000-0002-5598-8592], Apollo - University of Cambridge Repository

المصدر: Epilepsia Open, Vol 5, Iss 2, Pp 295-300 (2020)
Epilepsia Open

مصطلحات موضوعية: ketogenic dietary therapy, ring chromosome 20 syndrome r(20), medicine.medical_specialty, Pediatrics, business.industry, co‐production, Ring chromosome 20, Cognition, Disease, refractory epilepsy, medicine.disease, lcsh:RC346-429, Epilepsy, Quality of life (healthcare), Neurology, Acute care, Patient experience, KDT, medicine, Short Research Article, Neurology (clinical), Medical prescription, business, lcsh:Neurology. Diseases of the nervous system

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef4828655185096211f415960e3ff7c
https://www.repository.cam.ac.uk/handle/1810/303822

المؤلفون: Angela Peron, Ilaria Catusi, Maria Paola Recalcati, Luciano Calzari, Lidia Larizza, Aglaia Vignoli, Maria Paola Canevini

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, ring chromosome 20 syndrome r(20), ring chromosomes, mosaicism, cytogenetics, karyotype, seizures, rare disease, epilepsy

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Ring_Chromosome_20_Syndrome_Genetics_Clinical_Characteristics_and_Overlapping_Phenotypes_xlsx/13345811

الاتاحة: https://doi.org/10.3389/fneur.2020.613035.s001
https://figshare.com/articles/dataset/Data_Sheet_1_Ring_Chromosome_20_Syndrome_Genetics_Clinical_Characteristics_and_Overlapping_Phenotypes_xlsx/13345811

المؤلفون: Millichap, J Gordon

المصدر: Pediatric Neurology Briefs; Vol 8, No 02 | Feb 1994; 10-11 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-8-2

مصطلحات موضوعية: Ring Chromosome 20 Syndrome, Partial Seizures, Antiepileptic Agents

وصف الملف: application/xml; application/pdf

Relation: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-8-2-3/5472; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-8-2-3/5473; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-8-2-3

الاتاحة: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-8-2-3
https://doi.org/10.15844/pedneurbriefs-8-2-3

المؤلفون: 刘玉鹏, 丁圆, 李东晓, 杨志仙, 宋金青, 王爽, 杨艳玲, 秦炯

المساهمون: 100044,北京大学人民医院儿科, 100034,北京大学第一医院儿科

المصدر: 万方 ; CSCD ; http://d.g.wanfangdata.com.cn/Periodical_syeklczz201714017.aspx

مصطلحات موضوعية: 20号环状染色体综合征, 难治性癫痫, 智力运动发育落后, 染色体核型分析, Ring chromosome 20 syndrome, Intractable epilepsy, Mental retardation, Karyotype analysis

Relation: 中华实用儿科临床杂志. 2017, 32(14), 1108-1110.; 1911761; http://hdl.handle.net/20.500.11897/476790

الاتاحة: https://hdl.handle.net/20.500.11897/476790
https://doi.org/10.3760/cma.j.issn.2095-428X.2017.14.017

المؤلفون: Vignoli, Aglaia, Bisulli, Francesca, DARRA, Francesca, Mastrangelo, Massimo, Barba, Carmen, Giordano, Lucio, Turner, Katherine, Zambrelli, Elena, Chiesa, Valentina, Bova, Stefania, Fiocchi, Isabella, Peron, Angela, Naldi, Ilaria, Milito, Giuseppe, Licchetta, Laura, Tinuper, Paolo, Guerrini, Renzo, DALLA BERNARDINA, Bernardo, Canevini, Maria Paola

المساهمون: Vignoli, Aglaia, Bisulli, Francesca, Darra, Francesca, Mastrangelo, Massimo, Barba, Carmen, Giordano, Lucio, Turner, Katherine, Zambrelli, Elena, Chiesa, Valentina, Bova, Stefania, Fiocchi, Isabella, Peron, Angela, Naldi, Ilaria, Milito, Giuseppe, Licchetta, Laura, Tinuper, Paolo, Guerrini, Renzo, DALLA BERNARDINA, Bernardo, Canevini, Maria Paola

مصطلحات موضوعية: Age-dependent course, Epileptic encephalopathy, Ring chromosome 20 syndrome, Seizure semiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/27816898; info:eu-repo/semantics/altIdentifier/wos/WOS:000390742500013; volume:128; firstpage:83; lastpage:93; numberofpages:11; journal:EPILEPSY RESEARCH; http://hdl.handle.net/11562/952629; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84995580440

الاتاحة: http://hdl.handle.net/11562/952629
https://doi.org/10.1016/j.eplepsyres.2016.10.004

المؤلفون: Stefania Maria Bova, Massimo Mastrangelo, Katherine Turner, Giuseppe Milito, Maria Paola Canevini, Laura Licchetta, Aglaia Vignoli, Carmen Barba, Lucio Giordano, Paolo Tinuper, Valentina Chiesa, Angela Peron, Francesca Darra, Ilaria Naldi, Bernardo Dalla Bernardina, Elena Zambrelli, Francesca Bisulli, Isabella Fiocchi, Renzo Guerrini

المساهمون: Vignoli, Aglaia, Bisulli, Francesca, Darra, Francesca, Mastrangelo, Massimo, Barba, Carmen, Giordano, Lucio, Turner, Katherine, Zambrelli, Elena, Chiesa, Valentina, Bova, Stefania, Fiocchi, Isabella, Peron, Angela, Naldi, Ilaria, Milito, Giuseppe, Licchetta, Laura, Tinuper, Paolo, Guerrini, Renzo, Dalla Bernardina, Bernardo, Canevini, Maria Paola

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Neurology, Adolescent, Ring chromosome 20, Status epilepticus, Severity of Illness Index, Ring chromosome 20 syndrome, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Severity of illness, medicine, Humans, Ring Chromosomes, Cognitive decline, Child, Psychiatry, Age-dependent course, Genetic Association Studies, Retrospective Studies, Epileptic encephalopathy, Age Factors, Brain, Electroencephalography, Middle Aged, Focal motor seizures, medicine.disease, Drug Resistant Epilepsy, Seizure semiology, Phenotype, 030104 developmental biology, Disease Progression, Anticonvulsants, Female, Neurology (clinical), medicine.symptom, Psychology, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac0484502075cf1fc1b09163902f2033
http://hdl.handle.net/11562/952629

المؤلفون: Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Katherine Turner, Mp, Canevini

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adult, Intelligence Tests, Male, Neuroscience (all), Epilepsy, Adolescent, Polysomnography, Chromosomes, Human, Pair 20, Sleep, REM, Electroencephalography, Ring chromosome 20 syndrome, Sleep, Neurology (clinical), Chromosome Disorders, Articles, Middle Aged, Neuropsychological Tests, Cytogenetics, Child, Preschool, Humans, Female, Sleep Stages, Wakefulness, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1ba95acdc6c1a0efe155a53cfaf6e6ee
https://europepmc.org/articles/PMC3812720/

المؤلفون: VIGNOLI A., CANEVINI M. P., LA SELVA L., FIORINI E., PIAZZINI A., LAZZAROTTO F., ZUCCA C., DARRA, Francesca, DALLA BERNARDINA, Bernardo

المساهمون: Vignoli, A., Canevini, M. P., Darra, Francesca, LA SELVA, L., Fiorini, E., Piazzini, A., Lazzarotto, F., Zucca, C., DALLA BERNARDINA, Bernardo

مصطلحات موضوعية: Epilepsy, Neuropsychological impairment, Ring chromosome 20 syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/19583784; info:eu-repo/semantics/altIdentifier/wos/WOS:000271057300011; volume:50; issue:11; firstpage:2420; lastpage:2427; numberofpages:8; journal:EPILEPSIA; http://hdl.handle.net/11562/342884; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70350364486

الاتاحة: http://hdl.handle.net/11562/342884
https://doi.org/10.1111/j.1528-1167.2009.02176.x

المؤلفون: Mario Paola Canevini, Ada Piazzini, Claudio Zucca, Lorita La Selva, Aglaia Vignoli, Elena Fiorini, Bernardo Dalla Bernardina, Francesca Darra, Francesca Lazzarotto

مصطلحات موضوعية: Adult, medicine.medical_specialty, Pediatrics, Ring chromosome, Encephalopathy, Chromosomes, Human, Pair 20, Drug Resistance, Ring chromosome 20, Comorbidity, Lamotrigine, Neuropsychological Tests, Epilepsy, Neuropsychological impairment, Ring chromosome 20 syndrome, Central nervous system disease, Intellectual Disability, medicine, Humans, Ring Chromosomes, Age of Onset, Psychiatry, Child, Triazines, Valproic Acid, Cognitive disorder, Neuropsychology, Syndrome, medicine.disease, Neurology, Anticonvulsants, Drug Therapy, Combination, Female, Neurology (clinical), Psychology, Cognition Disorders, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4488cae1f6403c0548152858ec963df0
http://hdl.handle.net/11562/342884