LEADER 01488nam a2200361 i 4500 001 991000981739707536 005 20020507104718.0 008 940317s1979 de ||| | eng 020 $a3540092382 035 $ab10156963-39ule_inst 035 $aLE00640149$9ExL 040 $aDip.to Fisica$bita 084 $a53(06) 084 $a53(082.2) 084 $a53.3.11 084 $a510.22 084 $a530.1'5'22 084 $aQC20.7.G76 111 2 $aInternational Colloquium and Integrative Conference on group theoretical methods in physics <1978 ; Austin, Texas>$0462231 245 10$aGroup theoretical methods in physics :$bproceedings of the 7th International Colloquium and Integrative Conference on group theory and mathematical physics, held in Austin, Texas, September 11-16, 1978 /$cedited by W. Beiglböck, A. Böhm and E. Takasugi 260 $aBerlin :$bSpringer-Verlag,$c1979 300 $axiii, 540 p. :$bill. ;$c25 cm 490 0 $aLecture notes in physics / edited by J. Ehlers...[et al.] ;$v94 650 4$aGroup theory$xCongresses 700 1 $aBeiglböck, W. 700 1 $aTakasugi, E. 700 1 $aBöhm, Arno 907 $a.b10156963$b17-02-17$c27-06-02 912 $a991000981739707536 945 $aLE006 53.3(042+082.2) BEI$g1$i2006000049160$lle006$o-$pE0.00$q-$rl$s- $t0$u0$v0$w0$x0$y.i1018983x$z27-06-02 996 $aGroup theoretical methods in physics$9187249 997 $aUNISALENTO 998 $ale006$b01-01-94$cm$da $e-$feng$gde $h0$i1 LEADER 04099nam 22006495 450 001 9911047670903321 005 20251205120441.0 010 $a981-9542-31-6 024 7 $a10.1007/978-981-95-4231-4 035 $a(MiAaPQ)EBC32436583 035 $a(Au-PeEL)EBL32436583 035 $a(CKB)43941630000041 035 $a(DE-He213)978-981-95-4231-4 035 $a(OCoLC)1559715375 035 $a(EXLCZ)9943941630000041 100 $a20251205d2025 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aMolecular Diagnosis of Deafness /$fby Shin-ichi Usami 205 $a1st ed. 2025. 210 1$aSingapore :$cSpringer Nature Singapore :$cImprint: Springer,$d2025. 215 $a1 online resource (343 pages) 225 1 $aModern Otology and Neurotology,$x2567-2525 311 08$a981-9542-30-8 327 $aMolecular Diagnosis of Deafness: Impact of Gene Identification -- Genetic Epidemiology of Deafness Genes and Clinical Applications -- Molecular auditory function -- Clinical Benefit of Molecular Diagnosis: Precision Medicine in Deafness -- Gap junction and channel transporter-related genes -- KCNQ4, GJB2, GJB6, KCNE1, KCNQ1, SLC26A4 -- Stereocilia-related genes CDH23, MYO7A, USH1C, PCDH15, USH1G, USH2A, ADGRV1, WHRN, CLRN1, MYO15A, MYO6, TMC1, STRC, ACTG1, DIAPH1, LOXHD1, PTPRQ, ESPN, MYO3A -- Neurotransmission-related genes OTOF, SLC17A8, PJVK -- Transcription factor and related genes EYA1, SIX1, PAX3, SOX10, MITF, SNAI2 CHD7, POU3F4, POU4F3, EYA4 -- Cell adhesion molecule and extracellular matrix-related genes COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, TECTA, OTOA, OTOG, OTOGL, COL4A3, COL4A4, COL4A5 -- Uncategorized important deafness genes WFS1, COCH, TMPRSS3, CRYM, NOG, mitochondrial -- Cochlear Implantation from the perspective of the responsible gene -- Gene therapy and mechanism-based drugs: Toward more precise treatment based on molecular diagnosis. 330 $aThis book sheds new light on the molecular diagnosis of deafness, emphasizing the impact of gene identification and its clinical application. Through this comprehensive volume, readers will gain insights into the genetic underpinnings of hearing loss and the latest advancements in genetic testing and counseling. The chapters cover topics such as the genetic epidemiology of deafness genes, non-syndromic and syndromic hearing loss, and the role of genetic testing in cochlear implantation. The author delves into specific genes like GJB2, SLC26A4, and MYO7A, providing a detailed analysis of their clinical implications. This book also explores future directions in genetic screening, making it an indispensable resource for understanding the complexities of genetic hearing loss. Molecular Diagnosis of Deafness is essential for ENT clinicians, geneticists, and genetic counselors seeking to enhance their knowledge of deafness genes and their clinical applications. It offers a practical guide to navigating the challenges of genetic heterogeneity in hearing loss and provides valuable insights for improving patient care through advanced genetic testing and counseling. 410 0$aModern Otology and Neurotology,$x2567-2525 606 $aNeurology 606 $aOtolaryngology 606 $aMedicine$xResearch 606 $aBiology$xResearch 606 $aMedical genetics 606 $aNeurology 606 $aOtorhinolaryngology 606 $aBiomedical Research 606 $aMedical Genetics 615 0$aNeurology. 615 0$aOtolaryngology. 615 0$aMedicine$xResearch. 615 0$aBiology$xResearch. 615 0$aMedical genetics. 615 14$aNeurology. 615 24$aOtorhinolaryngology. 615 24$aBiomedical Research. 615 24$aMedical Genetics. 676 $a617.8075 700 $aUsami$b Shin-ichi$01869631 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9911047670903321 996 $aMolecular Diagnosis of Deafness$94477832 997 $aUNINA