Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Amira Oshi"'
Autor:
Amira Oshi, Abdullah Alfaifi, Mohammed Z. Seidahmed, Khalid Al Hussein, Abeer Miqdad, Abdelmohsin Samadi, Omar Abdelbasit
Publikováno v:
Clinical Case Reports, Vol 9, Iss 3, Pp 1295-1298 (2021)
Abstract GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post‐mortem, but increased vigilance to this will allow for earlier diagnoses in other infan
Externí odkaz:
https://doaj.org/article/03cd9a936bd044e8a683739f119912c6
Autor:
Hesham Aldhalaan, Hana Akleh, Saeed Bohlega, Imaduddin Kanaan, Fathiya Al-Murshedi, Sarar Mohamed, Mohammed AlQuaiz, Mohammad Shagrani, Fahad A. Bashiri, Fowzan S. Alkuraya, Banan Al-Younes, Saif Alshahrani, Maha Alotaibi, Saeed Hassan, Amal Alqassmi, Farrukh Sheikh, Fahad I. Alsohaibani, Edward Cupler, Saad AlShahwan, Majid Alfadhel, Dalal K. Bubshait, Aziza Chedrawi, Hamad Al-Mojalli, Adila Al-Kindy, Amal Alhashem, Mohammad A. Al-Muhaizea, Shamshad Gulab, Khalid Alsaleem, Maisoon Almugbel, Dorota Monies, Faisal Abaalkhail, Ahmed S Alenizi, Suad Alyamani, Abeer Al-Saegh, Ayaz Shah, Dyala Jaroudi, Khalid S. Alqadi, Maha Alnemer, Tariq Faquih, Renad Albar, Khalid Al-Thihli, Heba Y. El Khashab, Sulaiman M. Al-Mayouf, Moayad El-Haj, Brian F. Meyer, Hasan Al-Dhekri, Ibraheem F. Abosoudah, Zuhair Rahbeeni, A. Al-Ghonaium, Alya Qari, Asma Akilan, Mohammed Al-Owain, Nabil Moghrabi, Hamoud Al-Mousa, Amira Oshi, Taghreed Shuaib, Maha Faden, M. Al-Sebayel, Maha Tulbah, Ali Al-Mehaidib, Shazia Subhani, Raashda A Sulaiman, Wesam Kurdi, Hisham Alkuraya, Abdulaziz Al-Saman, Abdullah Alshanbary, Saeed Al Tala, Mustafa A. Salih, Wajeeh Aldekhail, Mohamed El-Kalioby, Zeeshan Shah, Mohammed Zain Seidahmed, Zuhair N. Al-Hassnan, Yasser Sabr, Tahani Alqasim, Moeenaldeen Al-Sayed, Abdullah Alsonbul, Hussien Elsiesy, Rand Arnaout, Saad Alsaadoun, Muddathir H. Hamad, Brahim Tabarki, Sami Al-Hajjar, Randa Bassiouni, Maged H. Hussein, Dieter C. Broering, Soher Balkhy, Abdullah Tamim, Mohamed Abouelhoda, Talal Algoufi, Nawal Makhseed, Ewa Goljan, Turki M. Alkharfy, Talal A. Basha, Bandar K. Al Saud, Eissa Faqeih, Hamad Al-Zaidan, Laszlo Szonyi, Husam R. Kayyali, Habiba Sultana, Suzan Alhomadi, Hadeel Elbardisy, Omar Dabbagh, Wafa Eyaid, Fuad Al Mutairi, Sameena Khan, Mohamed Ibrahim Khalil
Publikováno v:
Human Genetics
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 pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d7400f1ed91704112fd5669cc5c9c8
https://pubmed.ncbi.nlm.nih.gov/28600779
https://pubmed.ncbi.nlm.nih.gov/28600779
Autor:
Oshi, Amira1 (AUTHOR), Alfaifi, Abdullah1 (AUTHOR), Seidahmed, Mohammed Z.1 (AUTHOR), Al Hussein, Khalid1 (AUTHOR), Miqdad, Abeer1 (AUTHOR), Samadi, Abdelmohsin1 (AUTHOR), Abdelbasit, Omar1 (AUTHOR) omerabdelbasit@gmail.com
Publikováno v:
Clinical Case Reports. Mar2021, Vol. 9 Issue 3, p1295-1298. 4p.