000			02593nam a22002777a 4500
003			OSt
005			20240305192623.0
008			230103b |||||||| |||| 00| 0 eng d
020			_a 9781901346640
020			_a1901346641
022			_2 _a1472-4618
040			_cDLC
041			_aEnglish
100			_aDirk Kunst _947621
222			_aCommon terms and phrases _babnormalities absent activity addition Age of onset allele amino acid and/or anomalies approximately associated Autosomal dominant Autosomal recessive base bilateral body bone cause cells Chromosomal location Genes Clinical features cochlea codon collagen common complex condition conductive confirm Congenital copies defects deletions described Diagnosis Counseling issues disease disorder DNA sequences early Effect of mutation Epidemiology Inheritance Chromosomal expression females Figure frequencies function genetic genome haploinsufficiency hearing impairment hypoplasia important increased individuals Inheritance Chromosomal location insertions involved known lead loss major males malformations manifest mild missense mutations mitochondrial moderate molecule Mutation analysis Mutational spectrum mutations lead myosin nerve nonsense normal nucleotide occur onset Epidemiology Inheritance osteopetrosis pairs patients phenotype present profound progressive protein region renal reported result seen sequence severe SNHI specific sporadic substitutions suggested symptoms syndrome tests tumors Unknown usually variable vestibular X-linked
245			_aGenetics for ENT Specialists
260			_a32–38 Osnaburgh Street, London, NW1 3ND, UK: _bRemedica, _cc2005
300			_a254 pages
490			_aGenetics Series REMEDICA genetics for-- series,
520			_aThe most prevalent ENT disorders are those that affect hearing. Approximately 1 in 1,000 children is born with a severe hearing impairment, and in at least half of these cases the cause is inherited. In recent years, considerable progress has been made in the field of molecular genetic studies on hereditary sensorineural hearing impairment, and it has recently become possible to make genetic diagnoses based on molecular tests in an increasing number of otologic disorders. This book provides practitioners with a concise overview of advances in this important field of medicine and will facilitate improved management of patients with ENT disorders.
600			_x Medical / Genetics _926881
600			_xMedical  › Genetics _947616
700			_aHannie Kremer _947622
700			_a Cor Cremers _947623
942			_2ddc _cEB
999			_c9486 _d9486