AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. (Record no. 16066804)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02330 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515014044.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200605s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0364-5134 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ana.20749 |
| 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 | Valente, Enza Maria |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060509 |
| 245 00 - TITLE STATEMENT | |
| Title | AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Annals of neurology |
| Date of publication, distribution, etc. | Mar 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 527-34 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Proteins, Signal Transducing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Proteins, Vesicular Transport |
| 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Stem |
| General subdivision | pathology |
| 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 | Chromosome Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 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 | Gene Frequency |
| 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 | Magnetic Resonance Imaging |
| General subdivision | methods |
| 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 | Models, Molecular |
| 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 | Polymorphism, Genetic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brancati, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silhavy, Jennifer L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castori, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marsh, Sarah E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barrano, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertini, Enrico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boltshauser, Eugen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zaki, Maha S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdel-Aleem, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdel-Salam, Ghada M H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bellacchio, Emanuele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Battini, Roberta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cruse, Robert P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krishnamoorthy, Kalpathy S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lagier-Tourenne, Clotilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magee, Alex |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pascual-Castroviejo, Ignacio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salpietro, Carmelo D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarco, Dean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleeson, Joseph G |
| 773 0# - HOST ITEM ENTRY | |
| Title | Annals of neurology |
| Related parts | vol. 59 |
| -- | no. 3 |
| -- | p. 527-34 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ana.20749">https://doi.org/10.1002/ana.20749</a> |
| Public note | Available from publisher's website |
No items available.