The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. (Record no. 27264416)
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | AlSayed, Moeenaldeen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Alhassnan, Zuhair |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Alotaibi, Maha |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kayyali, Husam |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Al-Owain, Mohammed |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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 | Faden, Maha |
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Personal name | Alyounes, Banan |
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Personal name | Jaroudi, Dyala |
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Personal name | Goljan, Ewa |
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Personal name | Elbardisy, Hadeel |
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Personal name | Akilan, Asma |
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Personal name | Albar, Renad |
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Personal name | Aldhalaan, Hesham |
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Personal name | Gulab, Shamshad |
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Personal name | Chedrawi, Aziza |
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Personal name | Al Saud, Bandar K |
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Personal name | Kurdi, Wesam |
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Personal name | Makhseed, Nawal |
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Personal name | Alqasim, Tahani |
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Personal name | El Khashab, Heba Y |
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Personal name | Al-Mousa, Hamoud |
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Personal name | Alhashem, Amal |
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Personal name | Kanaan, Imaduddin |
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Personal name | Algoufi, Talal |
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Personal name | Alsaleem, Khalid |
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Personal name | Basha, Talal A |
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Personal name | Al-Murshedi, Fathiya |
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Personal name | Khan, Sameena |
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Personal name | Al-Kindy, Adila |
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Personal name | Alnemer, Maha |
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Personal name | Al-Hajjar, Sami |
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Personal name | Alyamani, Suad |
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Personal name | Aldhekri, Hasan |
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Personal name | Al-Mehaidib, Ali |
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Personal name | Arnaout, Rand |
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Personal name | Dabbagh, Omar |
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Personal name | Shagrani, Mohammad |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Broering, Dieter |
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Personal name | Tulbah, Maha |
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Personal name | Alqassmi, Amal |
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Personal name | Almugbel, Maisoon |
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Personal name | AlQuaiz, Mohammed |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Alsaman, Abdulaziz |
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Personal name | Al-Thihli, Khalid |
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Personal name | Sulaiman, Raashda A |
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Personal name | Al-Dekhail, Wajeeh |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Alsaegh, Abeer |
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Personal name | Bashiri, Fahad A |
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Personal name | Qari, Alya |
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Personal name | Alhomadi, Suzan |
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Personal name | Alkuraya, Hisham |
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Elsiesy, Hussien |
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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 | Al Tala, Saeed |
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Personal name | Balkhy, Soher |
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Personal name | Bassiouni, Randa |
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Personal name | Alenizi, Ahmed S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hussein, Maged H |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hassan, Saeed |
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Personal name | Khalil, Mohamed |
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Personal name | Tabarki, Brahim |
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Personal name | Alshahwan, Saad |
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Personal name | Oshi, Amira |
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Personal name | Sabr, Yasser |
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Personal name | Alsaadoun, Saad |
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Personal name | Salih, Mustafa A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mohamed, Sarar |
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Personal name | Sultana, Habiba |
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Personal name | Tamim, Abdullah |
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Personal name | El-Haj, Moayad |
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | El-Kalioby, Mohamed |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Subhani, Shazia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Shah, Zeeshan |
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Personal name | Moghrabi, Nabil |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Meyer, Brian F |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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.