Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. (Record no. 30431918)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01907 a2200577 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518074512.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202002s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1203 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00439-019-02099-1 |
| 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 | Mukhopadhyay, Nandita |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200205 |
| 245 00 - TITLE STATEMENT | |
| Title | Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | Feb 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 215-226 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 21 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cleft Lip |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cleft Palate |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Colombia |
| 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 | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome-Wide Association Study |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | White People |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Whole Genome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bishop, Madison |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mortillo, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chopra, Pankaj |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hetmanski, Jacqueline B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taub, Margaret A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moreno, Lina M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valencia-Ramirez, Luz Consuelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Restrepo, Claudia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wehby, George L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hecht, Jacqueline T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deleyiannis, Frederic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Butali, Azeez |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weinberg, Seth M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beaty, Terri H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murray, Jeffrey C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leslie, Elizabeth J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feingold, Eleanor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marazita, Mary L |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 139 |
| -- | no. 2 |
| -- | p. 215-226 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00439-019-02099-1">https://doi.org/10.1007/s00439-019-02099-1</a> |
| Public note | Available from publisher's website |
No items available.