Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype. (Record no. 10379975)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01218 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513190131.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199912s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1015-8146 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Goossens, E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19991227 |
| 245 00 - TITLE STATEMENT | |
| Title | Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetic counseling (Geneva, Switzerland) |
| Date of publication, distribution, etc. | 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 133-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line |
| 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 Aberrations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Disorders |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 15 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Probes |
| 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 | Gene Duplication |
| 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 | In Situ Hybridization, Fluorescence |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Karyotyping |
| 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 | Mosaicism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Decock, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Potgieter, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fryns, J P |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetic counseling (Geneva, Switzerland) |
| Related parts | vol. 10 |
| -- | no. 2 |
| -- | p. 133-6 |
No items available.