Genetics for Pediatricians (Record no. 9488)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02826nam 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 | 9781901346633 |
| International Standard Book Number | 1901346633 |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| Source | 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 | Mohnish Suri |
| 9 (RLIN) | 43936 |
| 222 ## - KEY TITLE | |
| Key title | Common terms and phrases |
| Qualifying information | abnormalities activity affected Age of onset allele amino acids appears approximately associated autosomal dominant autosomal recessive basis birth carrier cause cell childhood Chromosomal location Gene classical Clinical features collagen common complex condition congenital consist contains counseling defect deficiency deletions disease disorders early encodes enzyme exons exons and encodes expression factor families female Figure findings frame-shift gene Gene Mutational spectrum Genetic diagnosis growth haploinsufficiency hearing loss HMSN identified incidence increased individuals Inheritance Inheritance Chromosomal location insertions involved isolated known levels loss loss of function males mild missense mutations Molecular pathogenesis muscle mutation analysis myosin nonsense normal occur offered parents paternal patients phenotype point mutations population Prenatal diagnosis present probably progressive protein rare receptor recurrence reduced region repeat result risk seen sequence severe short specific splice-site mutations syndrome Table testing transcription tumor Unknown usually variable |
| 245 ## - TITLE STATEMENT | |
| Title | Genetics for Pediatricians |
| 250 ## - EDITION STATEMENT | |
| Edition statement | illustrated |
| 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 | 308 pages |
| 490 ## - SERIES STATEMENT | |
| Series statement | Genetics Series REMEDICA genetics for-- series, |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Annotation Pediatricians, medical geneticists, genetics counselors. Genetic testing now plays an important role in the investigation of almost every child who presents with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years. The number of conditions that have been mapped or in which the causative gene has been isolated is vast. In this book, coverage has been restricted to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family. |
| 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) | 43938 |
| 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 | EBS13536 | 01/03/2023 | EBS13536 | 01/03/2023 | E-BOOKS |