Phenotypes and genotypes in individuals with SMC1A variants. (Record no. 27214184)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02951 a2200985 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517154818.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201712s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.38279 |
| 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 | Huisman, Sylvia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171201 |
| 245 00 - TITLE STATEMENT | |
| Title | Phenotypes and genotypes in individuals with SMC1A variants. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Aug 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2108-2125 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 | 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 | Cell Cycle Proteins |
| General subdivision | genetics |
| 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 | Chromosomal Proteins, Non-Histone |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | De Lange Syndrome |
| General subdivision | diagnosis |
| 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 | 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 | Infant, Newborn |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Netherlands |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rett Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spasms, Infantile |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Structural Maintenance of Chromosome Protein 1 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mulder, Paul A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redeker, Egbert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bader, Ingrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bisgaard, Anne-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brooks, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cereda, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cinca, Constanza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clark, Dinah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormier-Daire, Valerie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deardorff, Matthew A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Diderich, Karin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elting, Mariet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Essen, Anthonie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | FitzPatrick, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gervasini, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gillessen-Kaesbach, Gabriele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Girisha, Katta M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hilhorst-Hofstee, Yvonne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hopman, Saskia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Horn, Denise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isrie, Mala |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jansen, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jespersgaard, Cathrine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaiser, Frank J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaur, Maninder |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleefstra, Tjitske |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krantz, Ian D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lakeman, Phillis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Landlust, Annemiek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lessel, Davor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michot, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moss, Jo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Noon, Sarah E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oliver, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parenti, Ilaria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pie, Juan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramos, Feliciano J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rieubland, Claudine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Russo, Silvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tümer, Zeynep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vorstenbosch, Rieneke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wenger, Tara L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Balkom, Ingrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piening, Sigrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wierzba, Jolanta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Raoul C |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 173 |
| -- | no. 8 |
| -- | p. 2108-2125 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.38279">https://doi.org/10.1002/ajmg.a.38279</a> |
| Public note | Available from publisher's website |
No items available.