The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. (Record no. 26719010)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02399 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517131715.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201708s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2016.182 |
| 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 | Zazo Seco, Celia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170807 |
| 245 00 - TITLE STATEMENT | |
| Title | The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 02 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 308-314 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 | Connexin 26 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Connexins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Extracellular Matrix Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | GPI-Linked Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| General subdivision | standards |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss |
| General subdivision | diagnosis |
| 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 | Intercellular Signaling Peptides and Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myosin Heavy Chains |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myosins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Netherlands |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| General subdivision | standards |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wesdorp, Mieke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feenstra, Ilse |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pfundt, Rolph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hehir-Kwa, Jayne Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lelieveld, Stefan H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castelein, Steven |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilissen, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Wijs, Ilse J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Admiraal, Ronald Jc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pennings, Ronald Je |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kunst, Henricus Pm |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Kamp, Jiddeke M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tamminga, Saskia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houweling, Arjan C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plomp, Astrid S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maas, Saskia M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Koning Gans, Pia Am |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kant, Sarina G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Geus, Christa M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frints, Suzanna Gm |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vanhoutte, Els K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Dooren, Marieke F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Boogaard, Marie-José H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nelen, Marcel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Hannie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoefsloot, Lies |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schraders, Margit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yntema, Helger G |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 25 |
| -- | no. 3 |
| -- | p. 308-314 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2016.182">https://doi.org/10.1038/ejhg.2016.182</a> |
| Public note | Available from publisher's website |
No items available.