Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes. (Record no. 30067282)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01988 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518055911.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202006s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2324-9269 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/mgg3.954 |
| 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 | Rahman, Muhammad M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200622 |
| 245 00 - TITLE STATEMENT | |
| Title | Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics & genomic medicine |
| Date of publication, distribution, etc. | 10 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e00954 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Chromosomes, Human, Pair 15 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 7 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases |
| 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 Deletion |
| 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 | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gonads |
| General subdivision | metabolism |
| 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 | diagnosis |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nerve Tissue Proteins |
| General subdivision | genetics |
| 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 | Potassium Channels |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor, IGF Type 1 |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uddin, Km Furkan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Jezawi, Nesreen K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karuvantevida, Noushad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akter, Hosneara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dity, Nushrat J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rahaman, Md Ashiquir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Begum, Maksuda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rahaman, Md Atikur |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baqui, Md Abdul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salwa, Zeena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Islam, Serajul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Woodbury-Smith, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basiruzzaman, Mohammed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uddin, Mohammed |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics & genomic medicine |
| Related parts | vol. 7 |
| -- | no. 10 |
| -- | p. e00954 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/mgg3.954">https://doi.org/10.1002/mgg3.954</a> |
| Public note | Available from publisher's website |
No items available.