Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory. (Record no. 16789362)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01580 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515053315.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200703s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-3600 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1097/gim.0b013e31802d833c |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Strom, Charles M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070301 |
| 245 00 - TITLE STATEMENT | |
| Title | Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | Jan 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 46-51 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fragile X Mental Retardation Protein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fragile X Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Frequency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Counseling |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Laboratories |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prenatal Diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trinucleotide Repeat Expansion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crossley, Beryl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redman, Joy B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buller, Arlene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quan, Franklin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peng, Mei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McGinnis, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fenwick, Raymond G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Weimin |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 9 |
| -- | no. 1 |
| -- | p. 46-51 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1097/gim.0b013e31802d833c">https://doi.org/10.1097/gim.0b013e31802d833c</a> |
| Public note | Available from publisher's website |
No items available.