The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exom...
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
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Author / Creator
Monies, Dorota , Abouelhoda, Mohamed , AlSayed, Moeenaldeen , Alhassnan, Zuhair , Alotaibi, Maha , Al-Owain, Mohammed , Shah, Ayaz , Rahbeeni, Zuhair , Al-Muhaizea, Mohammad A. , Alzaidan, Hamad I. , Cupler, Edward , Bohlega, Saeed , Faqeih, Eissa , Faden, Maha , Alyounes, Banan , Jaroudi, Dyala , Goljan, Ewa , Elbardisy, Hadeel , Akilan, Asma , Albar, Renad , Aldhalaan, Hesham , Gulab, Shamshad , Chedrawi, Aziza , Al Saud, Bandar K , Kurdi, Wesam , Makhseed, Nawal , Alqasim, Tahani , El Khashab, Heba Y. , Al-Mousa, Hamoud , Kanaan, Imaduddin , Algoufi, Talal , Alsaleem, Khalid , Basha, Talal A. , Al-Murshedi, Fathiya , Al-Kindy, Adila , Al-Hajjar, Sami , Alyamani, Suad , Aldhekri, Hasan , Al-Mehaidib, Ali , Arnaout, Rand , Dabbagh, Omar , Shagrani, Mohammad , Broering, Dieter , Alqassmi, Amal , Almugbel, Maisoon , AlQuaiz, Mohammed , Alsaman, Abdulaziz , Al-Thihli, Khalid , Sulaiman, Raashda A. , Al-Dekhail, Wajeeh , Alsaegh, Abeer , Bashiri, Fahad A. , Qari, Alya , Alhomadi, Suzan , Alkuraya, Hisham , Alsebayel, Mohammed , Hamad, Muddathir H , Szonyi, Laszlo , Abaalkhail, Faisal , Al-Mayouf, Sulaiman M. , Almojalli, Hamad , Alqadi, Khalid S. , Elsiesy, Hussien , Shuaib, Taghreed M. , Seidahmed, Mohammed Zain , Abosoudah, Ibraheem , Akleh, Hana , AlGhonaium, Abdulaziz , Alkharfy, Turki M. , Al Mutairi, Fuad , Eyaid, Wafa , Alshanbary, Abdullah , Sheikh, Farrukh R. , Alsohaibani, Fahad I. , Al Tala, Saeed , Balkhy, Soher , Bassiouni, Randa , Alenizi, Ahmed S. , Hussein, Maged H. , Hassan, Saeed , Khalil, Mohamed , Tabarki, Brahim , Alshahwan, Saad , Oshi, Amira , Sabr, Yasser , Alsaadoun, Saad , Salih, Mustafa A. , Mohamed, Sarar , Sultana, Habiba , Tamim, Abdullah , El-Haj, Moayad , Alshahrani, Saif , Bubshait, Dalal K. , Alfadhel, Majid , Faquih, Tariq , El-Kalioby, Mohamed , Shah, Zeeshan , Moghrabi, Nabil , Meyer, Brian F. and Alkuraya, Fowzan S.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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More information
Scope and Contents
Contents
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016–December 2016 comprising 972 solo (index only), 14 duo (parents or affected sibli...
Alternative Titles
Full title
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
Authors, Artists and Contributors
Author / Creator
Abouelhoda, Mohamed
AlSayed, Moeenaldeen
Alhassnan, Zuhair
Alotaibi, Maha
Al-Owain, Mohammed
Shah, Ayaz
Rahbeeni, Zuhair
Al-Muhaizea, Mohammad A.
Alzaidan, Hamad I.
Cupler, Edward
Bohlega, Saeed
Faqeih, Eissa
Faden, Maha
Alyounes, Banan
Jaroudi, Dyala
Goljan, Ewa
Elbardisy, Hadeel
Akilan, Asma
Albar, Renad
Aldhalaan, Hesham
Gulab, Shamshad
Chedrawi, Aziza
Al Saud, Bandar K
Kurdi, Wesam
Makhseed, Nawal
Alqasim, Tahani
El Khashab, Heba Y.
Al-Mousa, Hamoud
Kanaan, Imaduddin
Algoufi, Talal
Alsaleem, Khalid
Basha, Talal A.
Al-Murshedi, Fathiya
Al-Kindy, Adila
Al-Hajjar, Sami
Alyamani, Suad
Aldhekri, Hasan
Al-Mehaidib, Ali
Arnaout, Rand
Dabbagh, Omar
Shagrani, Mohammad
Broering, Dieter
Alqassmi, Amal
Almugbel, Maisoon
AlQuaiz, Mohammed
Alsaman, Abdulaziz
Al-Thihli, Khalid
Sulaiman, Raashda A.
Al-Dekhail, Wajeeh
Alsaegh, Abeer
Bashiri, Fahad A.
Qari, Alya
Alhomadi, Suzan
Alkuraya, Hisham
Alsebayel, Mohammed
Hamad, Muddathir H
Szonyi, Laszlo
Abaalkhail, Faisal
Al-Mayouf, Sulaiman M.
Almojalli, Hamad
Alqadi, Khalid S.
Elsiesy, Hussien
Shuaib, Taghreed M.
Seidahmed, Mohammed Zain
Abosoudah, Ibraheem
Akleh, Hana
AlGhonaium, Abdulaziz
Alkharfy, Turki M.
Al Mutairi, Fuad
Eyaid, Wafa
Alshanbary, Abdullah
Sheikh, Farrukh R.
Alsohaibani, Fahad I.
Al Tala, Saeed
Balkhy, Soher
Bassiouni, Randa
Alenizi, Ahmed S.
Hussein, Maged H.
Hassan, Saeed
Khalil, Mohamed
Tabarki, Brahim
Alshahwan, Saad
Oshi, Amira
Sabr, Yasser
Alsaadoun, Saad
Salih, Mustafa A.
Mohamed, Sarar
Sultana, Habiba
Tamim, Abdullah
El-Haj, Moayad
Alshahrani, Saif
Bubshait, Dalal K.
Alfadhel, Majid
Faquih, Tariq
El-Kalioby, Mohamed
Shah, Zeeshan
Moghrabi, Nabil
Meyer, Brian F.
Alkuraya, Fowzan S.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5502059
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5502059
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-017-1821-8
