PubMed for id: 1644883

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37965976,37921557,37910852,37799488,37781478,37735380,37593819,37547106,37501760,37490694,37440031,37397679,37351729,37313100,37288221,37272176,37258045,37227088,37224330,37107568,37090835,36967143,36928037,36894704,36817310,36803942,36789003,36788019,36719180,36704348,36635699,36584995,36580738,36537646,36521382,36484066,36468023,36319078,36176335,36160485,36052101,35996916,35989767,35958498,35860112,35858853,35846153,35751429,35698700,35642300,35602833,35497113,35470378,35359234,35312150,35238134,35228979,35186037,35154762,35092359,34980503,34951506,34846692,34839509,34821546,34750010,34731674,34721863,34675124,34592808,34539760,34487526,34423300,34359301,34356094,34308837,34308544,34182252,34113804,34091942,34090716,34010585,33994691,33845552,33822487,33794348,33777383,33717386,33544393,33531950,33531668,33432080,33193692,33168534,33131181,33111307,33098555,33010677,33004012,32989887,32944789,32944439,32895120,32812127,32764531,32671685,32651337,32622957,32600475,32381069,32367316,32335874,32233090,32164589,32139166,32000717,31988813,31969461,31884661,31763177,31710777,31625690,31464256,31346239,31326647,31302911,31202121,31095728,31015250,30982090,30911530,30895720,30858804,30695685,30625837,30617574,30581852,30573647,30518138,30455918,30446612,30423442,30403813,30269812,30204965,30120249,30120217,30055837,30010293,29987673,29955609,29695797,29605658,29592971,29568536,29508057,29456362,29390414,29334628,29255182,29230161,29217415,29146704,29138705,29112083,29087383,29052317,29039169,28973549,28971056,28965847,28846093,28838911,28816198,28771248,28719906,28667057,28625504,28604212,28508964,28505061,28497568,28497078,28431631,28402911,28371402,28347285,28344780,28228833,28220259,28173652,28172980,28127172,28125082,28087721,28052552,28018441,28001274,27959436,27956815,27927754,27866068,27785575,27747301,27651554,27570071,27530364,27434533,27401686,27377014,27373441,27340123,27208211,27082236,27081566,27081551,27081510,26985112,26850151,26830932,26759440,26729329,26714646,26595381,26541515,26490104,26489806,26477546,26310553,26301811,26221279,26166658,26096313,26092869,26043505,26026149,26002775,25920555,25890865,25818971,25638189,25448689,25360184,25230909,25173907,25118024,25040301,24983287,24946806,24886560,24850569,24814865,24665296,24665289,24605724,24592023,24531165,24360808,24360807,24339792,24168557,24166846,23965207,23956573,23919210,23870701,23868831,23692786,23622411,23532844,23509923,23386033,23034536,23028714,23027964,23023437,23012439,22910529,22693042,22606509,22573508,22425360,22382228,22353940,22336363,22331178,22291457,22260509,22246503,22241855,22187775,22152675,22115003,21977088,21932183,21743231,21680654,21679365,21641625,21636654,21633164,21527849,21500139,21370303,21214151,21115747,20963681,20726289,20615230,20592197,20591505,20503315,20464299,20446224,20301500,20231383,20229761,20201180,20108204,20036350,20019935,19942698,19928742,19906870,19876931,19800048,19778711,19755534,19625297,19574260,19540516,19533793,19461662,19443711,19433286,19402575,19331262,19129991,19058225,19041481,18950740,18785627,18782849,18674751,18639400,18565097,18454479,18412277,18306670,18268248,18178993,18164675,18054307,18046420,18000967,17960139,17898198,17617513,17564967,17562515,17558407,17516083,17409309,17377524,17216245,17160906,17149728,16900929,16827989,16682973,16682970,16566885,16566884,16453322,16365585,16244321,16240161,16155189,15988832,15966043,15944909,15887274,15633174,15562502,15517825,15473174,15467982,15385018,15322546,15277997,15272893,15138899,15119486,15119482,15060101,14981711,14502525,12917796,12436396,11993957,11810643,11807898,11705345,11669349,11360564,11186426,11146468,10748413,10577920,10511338,10511337,10511336,10511335,10511334,10511333,10508989,10488904,10488903,10488901,10488900,10385844,9796002,9721895,9502560,9438658,9373798,9309710,9295076,9189974,8737806,8719748,8682351,8456821,8299032,7924858,7820905,7799618,7538263,7439204,7416655,7390033,7266779,7158880,7131000,6665386,3974803,3508675,3058780,2470340,2352633,2311830,2241092,2015333,1887836,1789891,1341417,729929,576733,37642804,37440046,37296294,37131188,36802443,36765129,36752787,36596648,36558033,36533556,36493848,36469661,36129685,36063381,35655331,35398350,35319462,34828254,34716235,34711653,34627237,34596737,34523780,34492310,34205586,34191236,34155518,34132778,34114033,33771931,33741721,33547761,33486889,33441416,33404715,33323469,33297941,33234550,33046507,33039432,33024317,32897366,32820051,32687549,32507954,32366837,32169553,32165824,32040484,31816441,31577543,31465935,31412255,31391239,31373179,31366608,31131822,30988386,30905400,30799240,30609407,30520571,30359986,30321068,30286481,30217954,30009987,29961766,29847808,29449373,29368655,29321670,29159890,29140789,29138412,29089384,28954202,28893945,28787594,28726664,28700940,28631893,28620746,28596487,28487361,28391287,28320840,28151755,28118669,27923364,27859258,27727273,27715391,27491411,27153923,26916822,26748598,26582389,26485645,26386044,26241740,26174511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Results by year

Year	Number of Results
1977	1
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678 results

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Page 1

The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature.

Chen L, Uchida H, Komine R, Kodama T, Nakao T, Okada N, Yanagi Y, Shimizu S, Abbas S, Fukuda A, Sakamoto S, Kasahara M. Chen L, et al. Pediatr Transplant. 2023 Nov 15:e14640. doi: 10.1111/petr.14640. Online ahead of print. Pediatr Transplant. 2023. PMID: 37965976

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.

Owens JW, Hopkin RJ, Martin LJ, Kodani A, Simpson BN. Owens JW, et al. Ann Hum Genet. 2023 Nov 3. doi: 10.1111/ahg.12537. Online ahead of print. Ann Hum Genet. 2023. PMID: 37921557

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.

Kozina AA, Kanaeva GK, Baryshnikova NV, Ilinskaya AY, Kim AA, Erofeeva AV, Pogodina NA, Gadzhiyeva JP, Surkova EI, Ilinsky VV. Kozina AA, et al. J Int Med Res. 2023 Oct;51(10):3000605231206294. doi: 10.1177/03000605231206294. J Int Med Res. 2023. PMID: 37910852 Free PMC article.

Preoperative Nasobiliary Drainage as a Predictor of Response Before Surgical Fistula Creation in Joubert Syndrome With Refractory Cholestatic Pruritis.

Biermann M, Sundar PR, Veeramachaneni H, Willingham F. Biermann M, et al. ACG Case Rep J. 2023 Oct 3;10(10):e01171. doi: 10.14309/crj.0000000000001171. eCollection 2023 Oct. ACG Case Rep J. 2023. PMID: 37799488 Free PMC article.

Analysis of CT and MRI Manifestations of Joubert Syndrome.

Liao DW, Zheng X. Liao DW, et al. J Belg Soc Radiol. 2023 Sep 29;107(1):78. doi: 10.5334/jbsr.3283. eCollection 2023. J Belg Soc Radiol. 2023. PMID: 37781478 Free PMC article.

Novel variants identified in five Chinese families with Joubert Syndrome: a case report.

Fang L, Wang L, Yang L, Xu X, Pei S, Wu D. Fang L, et al. BMC Med Genomics. 2023 Sep 21;16(1):221. doi: 10.1186/s12920-023-01669-7. BMC Med Genomics. 2023. PMID: 37735380 Free PMC article.

Visual function in children with Joubert syndrome.

Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group. Morelli F, et al. Dev Med Child Neurol. 2023 Aug 18. doi: 10.1111/dmcn.15732. Online ahead of print. Dev Med Child Neurol. 2023. PMID: 37593819

Clinical and genetic characteristics of 36 children with Joubert syndrome.

Dong Y, Zhang K, Yao H, Jia T, Wang J, Zhu D, Xu F, Cheng M, Zhao S, Shi X. Dong Y, et al. Front Pediatr. 2023 Jul 21;11:1102639. doi: 10.3389/fped.2023.1102639. eCollection 2023. Front Pediatr. 2023. PMID: 37547106 Free PMC article.

Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.

Sreedevi N, Swapna N, Maruthy S, Jayakumar T, Sylvester C. Sreedevi N, et al. Glob Med Genet. 2023 Jul 17;10(3):190-193. doi: 10.1055/s-0043-1771184. eCollection 2023 Sep. Glob Med Genet. 2023. PMID: 37501760 Free PMC article.

Joubert syndrome: a case report of neonatal presentation and early diagnosis.

González-Gordillo CI, Orozco-Soto LE, Osegueda-Mayen JR, Nava-Tapia A, Martinez-Monreal D. González-Gordillo CI, et al. Bol Med Hosp Infant Mex. 2023;80(Supl 1):23-27. doi: 10.24875/BMHIM.22000075. Bol Med Hosp Infant Mex. 2023. PMID: 37490694 Free article. English.

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