Genetics for ENT Specialists (Record no. 9486)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02593nam a22002777a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240305192623.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 230103b |||||||| |||| 00| 0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781901346640 |
| International Standard Book Number | 1901346641 |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| Source | |
| International Standard Serial Number | 1472-4618 |
| 040 ## - CATALOGING SOURCE | |
| Transcribing agency | DLC |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | English |
| 100 ## - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Dirk Kunst |
| 9 (RLIN) | 47621 |
| 222 ## - KEY TITLE | |
| Key title | Common terms and phrases |
| Qualifying information | abnormalities 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 ## - TITLE STATEMENT | |
| Title | Genetics for ENT Specialists |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | 32–38 Osnaburgh Street, London, NW1 3ND, UK: |
| Name of publisher, distributor, etc. | Remedica, |
| Date of publication, distribution, etc. | c2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 254 pages |
| 490 ## - SERIES STATEMENT | |
| Series statement | Genetics Series REMEDICA genetics for-- series, |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | The 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 ## - SUBJECT ADDED ENTRY--PERSONAL NAME | |
| General subdivision | Medical / Genetics |
| 9 (RLIN) | 26881 |
| General subdivision | Medical › Genetics |
| 9 (RLIN) | 47616 |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| 9 (RLIN) | 47622 |
| 9 (RLIN) | 47623 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | ddc |
| Koha item type | E-BOOKS |
| Withdrawn status | Lost status | Source of classification or shelving scheme | Damaged status | Not for loan | Collection | Home library | Current library | Shelving location | Date acquired | Total checkouts | Barcode | Date last seen | Copy number | Price effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MWALIMU NYERERE LEARNING RESOURCES CENTRE-CUHAS BUGANDO | MWALIMU NYERERE LEARNING RESOURCES CENTRE-CUHAS BUGANDO | 01/03/2023 | EBS13534 | 01/03/2023 | EBS13534 | 01/03/2023 | E-BOOKS |