Clinical exome sequencing: results from 2819 samples reflecting 1000 families. (Record no. 26607837)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02620 a2200805 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517124319.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 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.2016.146 |
| 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 | Trujillano, Daniel |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170705 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical exome sequencing: results from 2819 samples reflecting 1000 families. |
| 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 | 176-182 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Evaluation Study; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Child, Preschool |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Flavoproteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotyping Techniques |
| General subdivision | methods |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intracellular Signaling Peptides and Proteins |
| General subdivision | genetics |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NAV1.3 Voltage-Gated Sodium Channel |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Family |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Potassium Channels |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatases, Non-Receptor |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protoporphyrinogen Oxidase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sodium Channels |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Voltage-Gated Sodium Channel beta-1 Subunit |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertoli-Avella, Aida M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kumar Kandaswamy, Krishna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weiss, Maximilian Er |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Köster, Julia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marais, Anett |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paknia, Omid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schröder, Rolf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garcia-Aznar, Jose Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Werber, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brandau, Oliver |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calvo Del Castillo, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baldi, Caterina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wessel, Karen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kishore, Shivendra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nahavandi, Nahid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eyaid, Wafaa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Rifai, Muhammad Talal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Rumayyan, Ahmed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Twaijri, Waleed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alothaim, Ali |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alhashem, Amal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Sannaa, Nouriya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Balwi, Mohammed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alfadhel, Majid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rolfs, Arndt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abou Jamra, Rami |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 25 |
| -- | no. 2 |
| -- | p. 176-182 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2016.146">https://doi.org/10.1038/ejhg.2016.146</a> |
| Public note | Available from publisher's website |
No items available.