Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. (Record no. 21859861)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02929 a2200841 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516095304.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201301s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/dds218 |
| 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 | Rainger, Joe |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130117 |
| 245 00 - TITLE STATEMENT | |
| Title | Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Sep 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 3969-83 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 | Abnormalities, Multiple |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) |
| General subdivision | genetics |
| 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dihydroorotate Dehydrogenase |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Embryo, Mammalian |
| General subdivision | metabolism |
| 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 | Gas Chromatography-Mass Spectrometry |
| General subdivision | standards |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression Regulation, Developmental |
| 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 | Genetic Complementation Test |
| 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 | Limb Buds |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Limb Deformities, Congenital |
| General subdivision | enzymology |
| 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 | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Micrognathism |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Multienzyme Complexes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Orotate Phosphoribosyltransferase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Orotic Acid |
| General subdivision | analogs & derivatives |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Orotidine-5'-Phosphate Decarboxylase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oxidoreductases Acting on CH-CH Group Donors |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reference Standards |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Schizosaccharomyces |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Schizosaccharomyces pombe Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bengani, Hemant |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campbell, Leigh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, Eve |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sokhi, Kishan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lam, Wayne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riess, Angelika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ansari, Morad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smithson, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lees, Melissa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mercer, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKenzie, Kathryn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lengfeld, Tobias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gener Querol, Blanca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Branney, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKay, Stewart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morrison, Harris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Medina, Bethan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robertson, Morag |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kohlhase, Jürgen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gordon, Colin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kirk, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieczorek, Dagmar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fitzpatrick, David R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 21 |
| -- | no. 18 |
| -- | p. 3969-83 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/dds218">https://doi.org/10.1093/hmg/dds218</a> |
| Public note | Available from publisher's website |
No items available.