PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. (Record no. 27748747)
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|---|---|
| fixed length control field | 03072 a2200997 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517183257.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201909s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2017-104946 |
| 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 | Reijnders, Margot R F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190910 |
| 245 00 - TITLE STATEMENT | |
| Title | PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | 02 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 104-113 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 | DNA-Binding Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Drosophila Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Face |
| General subdivision | abnormalities |
| 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 | Infant, Newborn |
| 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 | Muscle Hypotonia |
| General subdivision | etiology |
| 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 | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Structural Homology, Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janowski, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alvi, Mohsan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Self, Jay E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Essen, Ton J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vreeburg, Maaike |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouhl, Rob P W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevens, Servi J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stegmann, Alexander P A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schieving, Jolanda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pfundt, Rolph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Dijk, Katinke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smeets, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stumpel, Connie T R M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bok, Levinus A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cobben, Jan Maarten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engelen, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mansour, Sahar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Whiteford, Margo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chandler, Kate E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Douzgou, Sofia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cooper, Nicola S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tan, Ene-Choo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Foo, Roger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lai, Angeline H M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rankin, Julia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Green, Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lönnqvist, Tuula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isohanni, Pirjo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, Shelley |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruhoy, Ilene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carvalho, Karen S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dowling, James J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lev, Dorit L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sterbova, Katalin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lassuthova, Petra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neupauerová, Jana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waugh, Jeff L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keros, Sotirios |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clayton-Smith, Jill |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smithson, Sarah F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Hoeckel, Ceciel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, Mel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clowes, Virginia E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siu, Victoria Mok |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ddd Study, The |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selber, Paulo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leventer, Richard J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nellaker, Christoffer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Niessing, Dierk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hunt, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baralle, Diana |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 55 |
| -- | no. 2 |
| -- | p. 104-113 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2017-104946">https://doi.org/10.1136/jmedgenet-2017-104946</a> |
| Public note | Available from publisher's website |
No items available.