Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. (Record no. 22941750)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02207 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516161944.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201401s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1750-1172 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/1750-1172-8-110 |
| 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 | Voigt, Claudia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140102 |
| 245 00 - TITLE STATEMENT | |
| Title | Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Orphanet journal of rare diseases |
| Date of publication, distribution, etc. | Jul 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 110 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 | 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 | Esophageal Atresia |
| General subdivision | genetics |
| 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 Association Studies |
| 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 | 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 | Mandibulofacial Dysostosis |
| 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 | 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 | Ribonucleoprotein, U5 Small Nuclear |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mégarbané, André |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neveling, Kornelia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Czeschik, Johanna Christina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albrecht, Beate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callewaert, Bert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | von Deimling, Florian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hehr, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Falkenberg Smeland, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | König, Rainer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuechler, Alma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marcelis, Carlo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puiu, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reardon, Willie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riise Stensland, Hilde Monica Frostad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schweiger, Bernd |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steehouwer, Marloes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teller, Christopher |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin, Marcel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rahmann, Sven |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hehr, Ute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lüdecke, Hermann-Josef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieczorek, Dagmar |
| 773 0# - HOST ITEM ENTRY | |
| Title | Orphanet journal of rare diseases |
| Related parts | vol. 8 |
| -- | p. 110 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/1750-1172-8-110">https://doi.org/10.1186/1750-1172-8-110</a> |
| Public note | Available from publisher's website |
No items available.