Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. (Record no. 27239254)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01928 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517155549.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201802s 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.2016.163 |
| 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 | Pfundt, Rolph |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180213 |
| 245 00 - TITLE STATEMENT | |
| Title | Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. |
| 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. | 06 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 667-675 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 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 | Genetic Diseases, Inborn |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| 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 | Inheritance Patterns |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Whole Genome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Del Rosario, Marisol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vissers, Lisenka E L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kwint, Michael P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janssen, Irene M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Leeuw, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yntema, Helger G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nelen, Marcel R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lugtenberg, Dorien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kamsteeg, Erik-Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieskamp, Nienke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stegmann, Alexander P A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevens, Servi J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodenburg, Richard J T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simons, Annet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mensenkamp, Arjen R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rinne, Tuula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilissen, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hehir-Kwa, Jayne Y |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 19 |
| -- | no. 6 |
| -- | p. 667-675 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/gim.2016.163">https://doi.org/10.1038/gim.2016.163</a> |
| Public note | Available from publisher's website |
No items available.