The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. (Record no. 27264416)

MARC details
000 -LEADER
fixed length control field 04739 a2201669 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517160345.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201708s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1432-1203
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s00439-017-1821-8
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 Monies, Dorota
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170808
245 00 - TITLE STATEMENT
Title The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human genetics
Date of publication, distribution, etc. 08 2017
300 ## - PHYSICAL DESCRIPTION
Extent 921-939 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 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 Genetic Diseases, Inborn
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genome, Human
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element High-Throughput Nucleotide Sequencing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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 Molecular Sequence Annotation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Morbidity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
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 Reproducibility of Results
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Saudi Arabia
General subdivision epidemiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abouelhoda, Mohamed
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Personal name AlSayed, Moeenaldeen
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Personal name Alhassnan, Zuhair
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Personal name Alotaibi, Maha
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Personal name Kayyali, Husam
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Personal name Al-Owain, Mohammed
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Personal name Shah, Ayaz
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Personal name Rahbeeni, Zuhair
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Personal name Al-Muhaizea, Mohammad A
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Personal name Alzaidan, Hamad I
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Personal name Cupler, Edward
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Personal name Bohlega, Saeed
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Personal name Faqeih, Eissa
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Personal name Chedrawi, Aziza
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Personal name Al-Mousa, Hamoud
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Personal name Alsaleem, Khalid
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Personal name AlQuaiz, Mohammed
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Personal name Al-Dekhail, Wajeeh
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Personal name Alsaegh, Abeer
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Personal name Bashiri, Fahad A
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Personal name Alhomadi, Suzan
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Personal name Alsebayel, Mohammed
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Personal name Hamad, Muddathir H
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Personal name Szonyi, Laszlo
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Personal name Abaalkhail, Faisal
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Personal name Al-Mayouf, Sulaiman M
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Personal name Almojalli, Hamad
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Personal name Alqadi, Khalid S
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Personal name Shuaib, Taghreed M
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Personal name Seidahmed, Mohammed Zain
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Personal name Abosoudah, Ibraheem
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Personal name Akleh, Hana
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Personal name AlGhonaium, Abdulaziz
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Personal name Alkharfy, Turki M
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Personal name Al Mutairi, Fuad
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Personal name Eyaid, Wafa
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Personal name Alshanbary, Abdullah
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Personal name Sheikh, Farrukh R
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Personal name Alsohaibani, Fahad I
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Personal name Alsonbul, Abdullah
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Personal name Alenizi, Ahmed S
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Personal name Alshahwan, Saad
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Personal name Sabr, Yasser
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Personal name Mohamed, Sarar
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Personal name Alshahrani, Saif
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Personal name Bubshait, Dalal K
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Personal name Alfadhel, Majid
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Personal name Faquih, Tariq
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Personal name El-Kalioby, Mohamed
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Personal name Subhani, Shazia
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Personal name Shah, Zeeshan
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Personal name Moghrabi, Nabil
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Personal name Meyer, Brian F
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Personal name Alkuraya, Fowzan S
773 0# - HOST ITEM ENTRY
Title Human genetics
Related parts vol. 136
-- no. 8
-- p. 921-939
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s00439-017-1821-8">https://doi.org/10.1007/s00439-017-1821-8</a>
Public note Available from publisher's website

No items available.