Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. (Record no. 24026218)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02363 a2200793 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516223653.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201506s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.22617 |
| 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 | Makrythanasis, Periklis |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150609 |
| 245 00 - TITLE STATEMENT | |
| Title | Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Oct 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1203-10 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Arabs |
| 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 | Consanguinity |
| 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 | Genes, Recessive |
| 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 | Male |
| 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 | Rare Diseases |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nelis, Mari |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santoni, Federico A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guipponi, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vannier, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Béna, Frédérique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gimelli, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stathaki, Elisavet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Temtamy, Samia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mégarbané, André |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masri, Amira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aglan, Mona S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zaki, Maha S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bottani, Armand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fokstuen, Siv |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gwanmesia, Lorraine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aliferis, Konstantinos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bustamante Eduardo, Mariana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stamoulis, Georgios |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Psoni, Stavroula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kitsiou-Tzeli, Sofia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fryssira, Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kanavakis, Emmanouil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Allawi, Nasir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sefiani, Abdelaziz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Hait, Sana' |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elalaoui, Siham C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jalkh, Nadine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Gazali, Lihadh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Jasmi, Fatma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bouhamed, Habiba Chaabouni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdalla, Ebtesam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cooper, David N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamamy, Hanan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antonarakis, Stylianos E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 35 |
| -- | no. 10 |
| -- | p. 1203-10 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22617">https://doi.org/10.1002/humu.22617</a> |
| Public note | Available from publisher's website |
No items available.