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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

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 so...

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Detalles Bibliográficos
Autores principales: Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, 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, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, 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., Alsonbul, Abdullah, 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, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502059/
https://www.ncbi.nlm.nih.gov/pubmed/28600779
http://dx.doi.org/10.1007/s00439-017-1821-8