PubMed for id: 324662

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21937999,15286153,19102128,37460231,37107589,36891680,36753892,36686468,36651673,36499699,36343934,36293251,36217650,36217262,36191207,36177974,36164746,36097176,36088850,36062518,36041150,35950727,35930004,35753015,35510657,35444956,35441581,35355059,35332317,35296311,35126756,35092815,35001451,34948090,34927205,34845253,34587518,34523024,34437426,34391192,34244442,34241918,34232366,34201633,34101140,33969391,33956893,33884451,33867519,33851920,33794347,33793609,33715274,33666721,33655689,33629623,33577039,33421658,33419104,33316915,33307573,32665247,32562050,32467589,32385401,32384426,32312812,32281771,32157794,32012186,31902114,31881022,31874420,31869353,31854501,31846209,31776257,31668618,31655630,31598937,31543264,31512990,31494579,31446696,31435871,31381246,31353810,31347505,31291992,31268616,31160375,31133025,31121355,31106404,31049827,30806805,30634948,30628712,30599066,30569626,30520042,30509212,30298483,30282051,30268946,30208027,30106846,29961571,29874578,29800624,29754270,29676012,29582143,29271858,29081424,28933623,28780189,28734938,28648509,28620005,28555600,28384775,28365909,28224282,28193178,28179572,28026001,27922244,27809640,27783221,27778401,27752882,27729456,27638077,27604838,27592349,27509681,27473923,27312494,27176802,27132230,27121461,27075643,26887996,26823384,26730404,26706012,26689366,26683941,26554466,26520460,26513242,26510434,26411453,26341477,26341476,26331839,26305302,26043141,26011646,25978655,25922834,25909438,25893302,25855195,25814645,25755104,25738867,25706271,25698744,25567871,25533176,25481835,25421742,25397881,25388789,25381570,25372295,25331638,25255879,25255398,24942165,24849355,24827932,24810589,24781754,24688447,24655070,24622013,24619252,24472332,24460873,24393766,24391519,24341454,24311525,24227897,24164807,24104594,24030433,23991118,23931824,23921927,23776562,23713466,23701098,23640157,23625740,23542924,23540173,23536097,23447599,23440695,23439501,23434199,23354516,23348715,23341286,23273637,23224067,23179934,23049999,22982106,22901312,22724068,22705977,22608069,22534022,22504220,22412181,22253730,22116359,22116358,22116352,22094003,22090480,22038540,21800959,21795530,21792976,21738395,21574774,21569517,21483685,21455486,21338887,21303855,21261979,21239885,21211674,21203349,21185009,21178801,21152834,21128038,21067482,21063116,21046548,21045265,20963824,20932311,20888599,20872275,20848106,20837532,20826793,20821033,20815905,20729918,20727173,20633544,20600642,20570661,20497194,20385391,20205165,20160438,20150880,20137778,20111742,19937367,19816230,19531424,19426954,19379485,19372648,19320994,19260055,19206157,19176815,19150487,19130600,19129695,19111912,19089887,19017801,18810196,18809482,18766159,18718358,18670763,18521853,18455933,18430532,18427006,18404215,18347256,18340575,18340555,18300005,18285426,18273442,18083591,18072270,18039969,17896313,17878803,17876667,17721409,17663432,17639784,17538359,17538205,17538204,17512914,17503324,17487569,17443271,17442411,17436285,17336006,17300888,17275794,17270734,17187934,17131260,17106260,16798106,16763025,16736738,16731394,16710123,16691564,16679490,16570074,16449806,16432850,16421138,16398052,16380907,16371846,16342203,16301217,16299809,16155193,16111824,16107213,16086836,15976448,15961427,15930085,15922575,15850684,15765517,15730345,15660226,15645494,15635074,15607946,15590699,15590698,15521980,15461317,15452674,15389316,15328018,15305986,15280215,15261098,15241239,15232286,15059776,15026512,14763322,14663429,14627667,12972945,12963806,12920581,12874121,12843317,12812751,12786748,12761913,12746863,12703051,12687643,12646839,12624726,12471561,12469219,12433399,12405956,12232498,12231626,12210131,12136232,12072916,12053133,12022187,12007148,11992483,11941484,11919333,11891657,11852033,11850063,11810451,11793341,11784008,11760600,11748138,11729328,11710498,11528388,11409409,11386759,11380622,11306626,11295836,11256431,11223279,11207799,11174059,11135239,11132722,11129530,10973247,10958658,10934262,10913880,10900098,10854771,10779186,10716237,10686344,10675785,10655058,10590019,10577796,10570205,10536212,10511629,10449762,10447238,10394935,10380967,10341082,10205929,10091368,9925020,9878195,9858718,9849679,9840505,9833969,9822146,9795202,9779665,9777961,9745950,9686781,9635681,9616696,9493437,9445085,9417906,9390822,9282892,9256349,9247065,9182843,9171833,9171832,9153119,9150164,9141389,9124122,9112970,8873351,8866431,8842737,8797567,8655145,8622919,8559307,8474110,8412568,8411729,8301357[uid]

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500 results

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A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM. Ansar M, et al. J Hum Genet. 2011 Dec;56(12):866-8. doi: 10.1038/jhg.2011.110. Epub 2011 Sep 22. J Hum Genet. 2011. PMID: 21937999 Free PMC article.

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.

Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB. Naz S, et al. J Med Genet. 2004 Aug;41(8):591-5. doi: 10.1136/jmg.2004.018523. J Med Genet. 2004. PMID: 15286153 Free PMC article.

Unique transgenic animal model for hereditary hearing loss.

Cosetti M, Culang D, Kotla S, O'Brien P, Eberl DF, Hannan F. Cosetti M, et al. Ann Otol Rhinol Laryngol. 2008 Nov;117(11):827-33. doi: 10.1177/000348940811701106. Ann Otol Rhinol Laryngol. 2008. PMID: 19102128 Free PMC article.

Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.

Traschütz A, Heindl F, Bilal M, Hartmann AM, Dufke C, Riess O, Zwergal A, Rujescu D, Haack T, Synofzik M, Strupp M. Traschütz A, et al. Neurology. 2023 Sep 5;101(10):e1001-e1013. doi: 10.1212/WNL.0000000000207553. Epub 2023 Jul 17. Neurology. 2023. PMID: 37460231

Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.

Sumalde AAM, Scholes MA, Kalmanson OA, Terhune EA, Frejo L, Wethey CI, Roman-Naranjo P, Carry PM, Gubbels SP, Lopez-Escamez JA, Hadley-Miller N, Santos-Cortez RLP. Sumalde AAM, et al. Genes (Basel). 2023 Mar 30;14(4):831. doi: 10.3390/genes14040831. Genes (Basel). 2023. PMID: 37107589 Free PMC article.

Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.

Shah SS, Fulton A, Jabroun M, Brightman D, Simpson BN, Bodamer OA. Shah SS, et al. Am J Med Genet A. 2023 May;191(5):1325-1338. doi: 10.1002/ajmg.a.63155. Epub 2023 Mar 9. Am J Med Genet A. 2023. PMID: 36891680

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

Sánchez-Tejerina D, Alvarez PF, Laínez E, Martinez VG, Santa-Cruz DI, Verdaguer L, Gratacòs M, Seoane JL, Raguer N, Hernández-Vara J, Llauradó A, Sotoca J, Salvado M, Arumi EG, Tizzano EF, Juntas R. Sánchez-Tejerina D, et al. J Neurol Sci. 2023 Mar 15;446:120565. doi: 10.1016/j.jns.2023.120565. Epub 2023 Jan 28. J Neurol Sci. 2023. PMID: 36753892

Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.

Ohmachi Y, Urai S, Bando H, Yokoi J, Yamamoto M, Kanie K, Motomura Y, Tsujimoto Y, Sasaki Y, Oi Y, Yamamoto N, Suzuki M, Shichi H, Iguchi G, Uehara N, Fukuoka H, Ogawa W. Ohmachi Y, et al. Front Endocrinol (Lausanne). 2023 Jan 4;13:1073173. doi: 10.3389/fendo.2022.1073173. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36686468 Free PMC article. Review.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M. Wigby K, et al. Am J Med Genet A. 2023 Apr;191(4):930-940. doi: 10.1002/ajmg.a.63097. Epub 2023 Jan 18. Am J Med Genet A. 2023. PMID: 36651673

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies.

Klarov LA, Pshennikova VG, Romanov GP, Cherdonova AM, Solovyev AV, Teryutin FM, Luginov NV, Kotlyarov PM, Barashkov NA. Klarov LA, et al. Int J Mol Sci. 2022 Dec 6;23(23):15372. doi: 10.3390/ijms232315372. Int J Mol Sci. 2022. PMID: 36499699 Free PMC article.

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