A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. (Record no. 26933515)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02331 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517142139.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2017.01.034 |
| 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 | Paolini, Nahuel A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170510 |
| 245 00 - TITLE STATEMENT | |
| Title | A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Mar 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 506-522 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 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 | Codon |
| General subdivision | genetics |
| 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 | Exome |
| 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 | Fibroblasts |
| General subdivision | cytology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss |
| General subdivision | genetics |
| 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 | Microcephaly |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oxidative Stress |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Biosynthesis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ribosomal Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ribosomes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Alignment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Attwood, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sondalle, Samuel B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vieira, Carolina Marques Dos Santos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Adrichem, Anita M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | di Summa, Franca M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Donohue, Marie-Françoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleizes, Pierre-Emmanuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rachuri, Swaksha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Briggs, Joseph W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fischer, Roman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ratcliffe, Peter J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wlodarski, Marcin W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houtkooper, Riekelt H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | von Lindern, Marieke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuijpers, Taco W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dinman, Jonathan D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baserga, Susan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cockman, Matthew E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacInnes, Alyson W |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 100 |
| -- | no. 3 |
| -- | p. 506-522 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2017.01.034">https://doi.org/10.1016/j.ajhg.2017.01.034</a> |
| Public note | Available from publisher's website |
No items available.