Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. (Record no. 25393094)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03235 a2201057 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517061201.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201610s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.22924 |
| 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 | Huang, Lijia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20161018 |
| 245 00 - TITLE STATEMENT | |
| Title | Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Feb 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 148-54 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Motifs |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Databases, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haploinsufficiency |
| 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 | Intellectual Disability |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mandibulofacial Dysostosis |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 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 | Penetrance |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peptide Elongation Factors |
| General subdivision | genetics |
| 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 | Protein Structure, Secondary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Tertiary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ribonucleoprotein, U5 Small Nuclear |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spliceosomes |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vanstone, Megan R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hartley, Taila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Osmond, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barrowman, Nick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Allanson, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baker, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dabir, Tabib A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dipple, Katrina M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Estrella, Jane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faghfoury, Hanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Favaro, Francine P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goel, Himanshu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gregersen, Pernille A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gripp, Karen W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grix, Art |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guion-Almeida, Maria-Leine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harr, Margaret H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hudson, Cindy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hunter, Alasdair G W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Johnson, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joss, Shelagh K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kimball, Amy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kini, Usha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kline, Antonie D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lauzon, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lildballe, Dorte L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López-González, Vanesa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martinezmoles, Johanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meldrum, Cliff |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mirzaa, Ghayda M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morel, Chantal F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morton, Jenny E V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pyle, Louise C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quintero-Rivera, Fabiola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Richer, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheuerle, Angela E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schönewolf-Greulich, Bitten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shears, Deborah J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silver, Josh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Amanda C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Temple, I Karen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Kamp, Jiddeke M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Dijk, Fleur S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vandersteen, Anthony M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | White, Sue M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zackai, Elaine H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zou, Ruobing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bulman, Dennis E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boycott, Kym M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lines, Matthew A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 37 |
| -- | no. 2 |
| -- | p. 148-54 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22924">https://doi.org/10.1002/humu.22924</a> |
| Public note | Available from publisher's website |
No items available.