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1دورية أكاديمية
المؤلفون: Gafner, Michal1,2 (AUTHOR), Haddad, Leila3 (AUTHOR) leil72@hotmail.com, Gupta, Rachna4,5 (AUTHOR), Leibovitz, Zvi6,7 (AUTHOR), Zilberman Ron, Itamar8 (AUTHOR), Ben‐Sira, Liat2,9 (AUTHOR), Libzon, Stephanie9,10 (AUTHOR), Gindes, Liat2,3,11 (AUTHOR), Boltshauser, Eugen12 (AUTHOR), Lerman‐Sagie, Tally2,3,10 (AUTHOR)
المصدر: Developmental Medicine & Child Neurology. Jul2024, Vol. 66 Issue 7, p948-957. 10p.
مصطلحات موضوعية: *JOUBERT syndrome, *HYDROCEPHALUS, *THIRD trimester of pregnancy, *SECOND trimester of pregnancy, *MAGNETIC resonance imaging
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2دورية أكاديمية
المؤلفون: Neissi, Mostafa1,2,3 iammostafaneissi@gmail.com, Mohammadi-Asl, Misagh3, Roghani, Mojdeh3, Al-Badran, Adnan Issa4, Sheikh-Hosseini, Motahareh3,5, Mohammadi-Asl, Javad3,6
المصدر: Neurology Asia. 2024, Vol. 29 Issue 2, p501-506. 6p.
مصطلحات موضوعية: *JOUBERT syndrome, *GENETIC mutation, *MISSENSE mutation, *DEVELOPMENTAL delay, *EYE movements, *OCULAR hypotony
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3دورية أكاديمية
المؤلفون: Pan, Yu-Wen1 (AUTHOR), Ou, Tsung-Ying2 (AUTHOR), Chou, Yen-Yin1,3 (AUTHOR), Kuo, Pao-Lin3,4,5 (AUTHOR), Hsiao, Hui-Pin6 (AUTHOR), Chiu, Pao-Chin7 (AUTHOR), Lin, Ju-Li8 (AUTHOR), Lo, Fu-Sung8 (AUTHOR), Wang, Chung-Hsing9,10 (AUTHOR), Chen, Peng-Chieh11,12 (AUTHOR) pengchic@mail.ncku.edu.tw, Tsai, Meng-Che1,3,11 (AUTHOR) mengchets@gs.ncku.edu.tw
المصدر: BMC Medical Genomics. 4/26/2024, Vol. 17 Issue 1, p1-11. 11p.
مصطلحات موضوعية: *CILIOPATHY, *JOUBERT syndrome, *LAURENCE-Moon-Biedl syndrome, *CONGENITAL disorders, *NONSENSE mutation, *INTELLECTUAL disabilities
مصطلحات جغرافية: TAIWAN
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4دورية أكاديمية
المؤلفون: Lin, Zaisheng1 (AUTHOR), Shen, Yue2 (AUTHOR), Li, Yan1 (AUTHOR), Lu, Chao2 (AUTHOR), Zhu, Ying1 (AUTHOR), He, Ruida1 (AUTHOR), Cao, Zongfu2 (AUTHOR), Yin, Zhe2 (AUTHOR), Gao, Huafang2 (AUTHOR), Guo, Bin1 (AUTHOR), Ma, Xu2 (AUTHOR), Cao, Muqing1 (AUTHOR), Luo, Minna2 (AUTHOR) lmn43@163.com
المصدر: Journal of Cellular Physiology. Apr2024, Vol. 239 Issue 4, p1-10. 10p.
مصطلحات موضوعية: *JOUBERT syndrome, *GENETIC variation, *RAS proteins, *MISSENSE mutation, *CELL physiology, *CELLULAR signal transduction
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5دورية أكاديمية
المؤلفون: Butti, Niccolò1,2 (AUTHOR) niccolo.butti@lanostrafamiglia.it, Oldrati, Viola1 (AUTHOR), Ferrari, Elisabetta1 (AUTHOR), Romaniello, Romina3 (AUTHOR), Gagliardi, Chiara4 (AUTHOR), Borgatti, Renato3,5 (AUTHOR), Urgesi, Cosimo1,6 (AUTHOR)
المصدر: Cerebellum. Apr2024, Vol. 23 Issue 2, p579-588. 10p.
مصطلحات موضوعية: *JOUBERT syndrome, *HUMAN abnormalities, *CEREBELLAR ataxia, *CEREBELLUM, *INTELLIGENCE levels, *MAYER-Rokitansky-Kuster-Hauser syndrome
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6دورية أكاديمية
المؤلفون: Jayarajan, Roopasree O.1,2 (AUTHOR), Chakraborty, Soura3 (AUTHOR), Raghu, Kozhiparambil Gopalan1,2 (AUTHOR), Purushothaman, Jayamurthy1,2 (AUTHOR), Veleri, Shobi4 (AUTHOR) shobi.veleri@icmr.gov.in
المصدر: Experimental Brain Research. Mar2024, Vol. 242 Issue 3, p619-637. 19p.
مصطلحات موضوعية: *JOUBERT syndrome, *CELL communication, *CILIA & ciliary motion, *GENE ontology, *CELL physiology, *GENE expression profiling
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7دورية أكاديمية
المؤلفون: Morelli, Federica1,2 (AUTHOR) federica.morelli02@universitadipavia.it, Toni, Federico1 (AUTHOR), Saligari, Elena2 (AUTHOR), D'Abrusco, Fulvio3 (AUTHOR), Serpieri, Valentina3 (AUTHOR), Ballante, Elena4,5 (AUTHOR), Ruberto, Giulio2 (AUTHOR), Borgatti, Renato1,6 (AUTHOR), Valente, Enza Maria3,7 (AUTHOR), Signorini, Sabrina2,6 (AUTHOR), Bertone, Chiara (AUTHOR), Misefari, Walter (AUTHOR), Antonini, Mauro (AUTHOR), Paini, Daria (AUTHOR), Perotto, Eleonora (AUTHOR), Luparia, Antonella (AUTHOR), Olivier, Lucrezia (AUTHOR), Ercolino, Elisa (AUTHOR), Pichiecchio, Anna (AUTHOR)
المصدر: Developmental Medicine & Child Neurology. Mar2024, Vol. 66 Issue 3, p379-388. 10p.
مصطلحات موضوعية: *JOUBERT syndrome, *VISION, *SYNDROMES in children, *VISUAL acuity, *RETINAL degeneration
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8دورية أكاديمية
المؤلفون: Chen, Lijian1,2 (AUTHOR), Uchida, Hajime1 (AUTHOR) uchida‐h@ncchd.go.jp, Komine, Ryuji1 (AUTHOR), Kodama, Tasuku1 (AUTHOR), Nakao, Toshimasa1 (AUTHOR), Okada, Noriki1 (AUTHOR), Yanagi, Yusuke1 (AUTHOR), Shimizu, Seiichi1 (AUTHOR), Abbas, Syed1,3 (AUTHOR), Fukuda, Akinari1 (AUTHOR), Sakamoto, Seisuke1 (AUTHOR), Kasahara, Mureo1 (AUTHOR)
المصدر: Pediatric Transplantation. Feb2024, Vol. 28 Issue 1, p1-7. 7p.
مصطلحات موضوعية: *JOUBERT syndrome, *LITERATURE reviews, *LIVER transplantation, *HEPATIC fibrosis, *PATIENT portals, *ESOPHAGEAL varices
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9دورية أكاديمية
المؤلفون: Goh, Chul Jun1 (AUTHOR) cj.ko@edgc.com, Kwon, Hyuk-Jung1,2 (AUTHOR) hjkwon@edgc.com, Kim, Yoonhee1 (AUTHOR) yh.kim@edgc.com, Jung, Seunghee1 (AUTHOR) sh.jung@edgc.com, Park, Jiwoo1 (AUTHOR) jw.park@edgc.com, Lee, Isaac Kise1,2,3 (AUTHOR) ks.lee@edgc.com, Park, Bo-Ram1 (AUTHOR) br.park@edgc.com, Kim, Myeong-Ji1 (AUTHOR) myeongji.kim@edgc.com, Kim, Min-Jeong4 (AUTHOR) mjkim@diagnomics.com, Lee, Min-Seob1,4 (AUTHOR) mlee@edgc.com
المصدر: Diagnostics (2075-4418). Jan2024, Vol. 14 Issue 1, p84. 16p.
مصطلحات موضوعية: *SINGLE nucleotide polymorphisms, *JOUBERT syndrome, *HUMAN genome, *DISEASE susceptibility, *MACHINE learning
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10دورية أكاديمية
المؤلفون: Owens, Joshua w.1,2 (AUTHOR) owensjw@upmc.edu, Hopkin, Robert J.2 (AUTHOR), Martin, Lisa J.2 (AUTHOR), Kodani, Andrew3 (AUTHOR), Simpson, Brittany N.2 (AUTHOR)
المصدر: Annals of Human Genetics. Jan2024, Vol. 88 Issue 1, p86-100. 15p.
مصطلحات موضوعية: *JOUBERT syndrome, *CILIA & ciliary motion, *PHENOTYPIC plasticity, *LITERATURE reviews, *PATHOLOGICAL physiology, *EYE movements