Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. (Record no. 24717481)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01796 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517022457.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201608s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2015.37 |
| 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 | Torrico, Bàrbara |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160824 |
| 245 00 - TITLE STATEMENT | |
| Title | Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Dec 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1694-701 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 | Autism Spectrum Disorder |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line, Tumor |
| 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 | 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 | Membrane Proteins |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Promoter Regions, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trinucleotide Repeats |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fernàndez-Castillo, Noèlia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hervás, Amaia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Milà, Montserrat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salgado, Marta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rueda, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buitelaar, Jan K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rommelse, Nanda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oerlemans, Anoek M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bralten, Janita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Freitag, Christine M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reif, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Battaglia, Agatino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazzone, Luigi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maestrini, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormand, Bru |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toma, Claudio |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 23 |
| -- | no. 12 |
| -- | p. 1694-701 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2015.37">https://doi.org/10.1038/ejhg.2015.37</a> |
| Public note | Available from publisher's website |
No items available.