Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. (Record no. 25325227)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02881 a2200913 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517054847.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201603s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.3410 |
| 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 | Akawi, Nadia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160307 |
| 245 00 - TITLE STATEMENT | |
| Title | Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Nov 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1363-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Multicenter Study; 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 | Cell Cycle Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | classification |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 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 | Genotype |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Matrix Metalloproteinases, Secreted |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein-Arginine N-Methyltransferases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ubiquitin-Protein Ligases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | United Kingdom |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McRae, Jeremy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ansari, Morad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balasubramanian, Meena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blyth, Moira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brady, Angela F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clayton, Stephen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cole, Trevor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deshpande, Charu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fitzgerald, Tomas W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Foulds, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francis, Richard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gabriel, George |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gerety, Sebastian S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goodship, Judith |
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| Personal name | Hobson, Emma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jones, Wendy D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joss, Shelagh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | King, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klena, Nikolai |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kumar, Ajith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lees, Melissa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lelliott, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lord, Jenny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McMullan, Dominic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Regan, Mary |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Osio, Deborah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piombo, Virginia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prigmore, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rajan, Diana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosser, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sifrim, Alejandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Audrey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swaminathan, Ganesh J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turnpenny, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Whitworth, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wright, Caroline F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Firth, Helen V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barrett, Jeffrey C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lo, Cecilia W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | FitzPatrick, David R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hurles, Matthew E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 47 |
| -- | no. 11 |
| -- | p. 1363-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.3410">https://doi.org/10.1038/ng.3410</a> |
| Public note | Available from publisher's website |
No items available.