Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. (Record no. 27909203)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02209 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517192240.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201809s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/gim.2017.134 |
| 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 | Archibald, Alison Dalton |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180926 |
| 245 00 - TITLE STATEMENT | |
| Title | Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. |
| 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. | 04 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 513-523 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 | Australia |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cystic Fibrosis |
| General subdivision | diagnosis |
| 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 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 Carrier Screening |
| General subdivision | methods |
| 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 | Humans |
| 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 | Mass Screening |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Atrophy, Spinal |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pregnancy |
| 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 | Prevalence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Melanie Jane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burgess, Trent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scarff, Katrina Louise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elliott, Justine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hunt, Clare Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McDonald, Zoe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barns-Jenkins, Caitlin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holt, Chelsea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sandoval, Karina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siva Kumar, Vanessa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ward, Lisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Allen, Emily Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collis, Sarah Valerie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cowie, Shannon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francis, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delatycki, Martin B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yiu, Eppie Mildred |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Massie, R John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pertile, Mark Domenic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | du Sart, Desirée |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruno, Damien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amor, David J |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 20 |
| -- | no. 5 |
| -- | p. 513-523 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/gim.2017.134">https://doi.org/10.1038/gim.2017.134</a> |
| Public note | Available from publisher's website |
No items available.