المؤلفون: Gafner, Michal^1,2 (AUTHOR), Haddad, Leila³ (AUTHOR) leil72@hotmail.com, Gupta, Rachna^4,5 (AUTHOR), Leibovitz, Zvi^6,7 (AUTHOR), Zilberman Ron, Itamar⁸ (AUTHOR), Ben‐Sira, Liat^2,9 (AUTHOR), Libzon, Stephanie^9,10 (AUTHOR), Gindes, Liat^2,3,11 (AUTHOR), Boltshauser, Eugen¹² (AUTHOR), Lerman‐Sagie, Tally^2,3,10 (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

المؤلفون: Pan, Yu-Wen¹ (AUTHOR), Ou, Tsung-Ying² (AUTHOR), Chou, Yen-Yin^1,3 (AUTHOR), Kuo, Pao-Lin^3,4,5 (AUTHOR), Hsiao, Hui-Pin⁶ (AUTHOR), Chiu, Pao-Chin⁷ (AUTHOR), Lin, Ju-Li⁸ (AUTHOR), Lo, Fu-Sung⁸ (AUTHOR), Wang, Chung-Hsing^9,10 (AUTHOR), Chen, Peng-Chieh^11,12 (AUTHOR) pengchic@mail.ncku.edu.tw, Tsai, Meng-Che^1,3,11 (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

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

المؤلفون: Butti, Niccolò^1,2 (AUTHOR) niccolo.butti@lanostrafamiglia.it, Oldrati, Viola¹ (AUTHOR), Ferrari, Elisabetta¹ (AUTHOR), Romaniello, Romina³ (AUTHOR), Gagliardi, Chiara⁴ (AUTHOR), Borgatti, Renato^3,5 (AUTHOR), Urgesi, Cosimo^1,6 (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

المؤلفون: Jayarajan, Roopasree O.^1,2 (AUTHOR), Chakraborty, Soura³ (AUTHOR), Raghu, Kozhiparambil Gopalan^1,2 (AUTHOR), Purushothaman, Jayamurthy^1,2 (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

المؤلفون: Morelli, Federica^1,2 (AUTHOR) federica.morelli02@universitadipavia.it, Toni, Federico¹ (AUTHOR), Saligari, Elena² (AUTHOR), D'Abrusco, Fulvio³ (AUTHOR), Serpieri, Valentina³ (AUTHOR), Ballante, Elena^4,5 (AUTHOR), Ruberto, Giulio² (AUTHOR), Borgatti, Renato^1,6 (AUTHOR), Valente, Enza Maria^3,7 (AUTHOR), Signorini, Sabrina^2,6 (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

المؤلفون: Chen, Lijian^1,2 (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, Syed^1,3 (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

المؤلفون: Goh, Chul Jun¹ (AUTHOR) cj.ko@edgc.com, Kwon, Hyuk-Jung^1,2 (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 Kise^1,2,3 (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-Seob^1,4 (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

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

المؤلفون: Marczak, Elzbieta¹ e.marczak@ipczd.pl, Szarras-Czapnik, Maria¹, Moszczyńska, Elzbieta¹

المصدر: AIMS Medical Science. 2023, Vol. 10 Issue 4, p343-352. 10p.

مصطلحات موضوعية: *JOUBERT syndrome, *LITERATURE reviews, *ADRENAL insufficiency, *PITUITARY dwarfism, *DEVELOPMENTAL delay, *EYE movements