Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Suad Al-Yamani"'
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
Aromatic L-amino acid decarboxylase (AADC) deficiency is an ultra-rare and often severe neurometabolic disorder resulting from variants in the dopa decarboxylase (DDC) gene. A timely diagnosis is critical to prevent secondary complications, promote d
Externí odkaz:
https://doaj.org/article/ffd69c53ccfe44d29f28f2b41da888f3
Autor:
Hanin Alsini, Abdulaziz Alghamdi, Shatha Alshafi, Khalid Hundallah, Sameer Almehmadi, Daad Alsowat, Suad Al-Yamani, Hanin Almuzaini, Ali Alwadie, Ali Al-Otaibi, Lamyaa Jad, Asma Almadhi, Fahad Bashiri, Amal Kentab, Muddathir H Hamad, Duaa Baarmah, Mohammed Alrifaie, Mohammed Almuqbel, Raidah Al Baradie, Ali Mir, Mohammed Jan, Osama Muthaffar, Mohammed Aljabri, Elsayed Ali, Mohammed Saeed, Abeer Matar, Brahim Tabarki
Publikováno v:
Seizure. 107:146-154
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::745bf8bf65107c87925440f1ee8c3052
https://doi.org/10.1016/j.seizure.2023.04.013
https://doi.org/10.1016/j.seizure.2023.04.013
Autor:
Seham Alameer, Mariam Almureikhi, Zuhair Rahbeeni, Mohamed Abouelhoda, Ameera Balobaid, Menasria Samira, Majid Alfadhel, Dalal K. Bubshait, Bashair Hamza Alabbasi, Mohammed Zain Seidahmed, Aziza Chedrawi, Dorota Monies, Hessa S. Alsaif, Hanan E. Shamseldin, Nisha Patel, Brahim Tabarki, Niema Ibrahim, Mohammad M. Al-Qattan, Suad Al Yamani, Hamad Al-Zaidan, Amal Y. Kentab, Iram Alluhaydan, Husam R. Kayyali, Maha Alotaibi, Abdulla Al Jasser, Maha Faden, Saeed Al Tala, Ewa Goljan, Firdous Abdulwahab, Brian F. Meyer, Suzan Alhomaidi, Ibrahim Almogarri, Mais Hashem, Wesam Kurdi, Heba Y. El Khashab, Sateesh Maddirevula, Amal Alhashem, Saad AlShahwan, Ranad Shaheen, Alya Qari, Mustafa A. Salih, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Fatema Alzahrani, Mohammed Al-Owain, Mohammad A. Al Muhaizea, Hana Akleh, Omar Dabbagh
Publikováno v:
Genetics in Medicine
Purpose Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb3524b768d420e369794467cab5605e
https://pubmed.ncbi.nlm.nih.gov/30237576
https://pubmed.ncbi.nlm.nih.gov/30237576
Autor:
Malak Alghamdi, Susan Alhumaidi, Saeed Altala, Mirna Assoum, Aziza Chedrawi, Moeen Al-Sayed, Hisham Aldhalaan, Suzan A AlKhater, M. Abouelhoda, Turki Alshareef, Maha Alotaibi, Khalid S. Alqadi, Alya Alkaff, Syed Ahmed, Musad Abu Khaled, Suad Al Yamani, Bassem Albeirouti, Ali Al-Mehaidib, Walaa Alshuaibi, Nawal Makhseed, Ghada M H Abdel-Salam, Ewa Goljan, Zuhair Rahbeeni, Maisoon Almugbel, Shaza Makki, Ranad Albar, Fuad Al Mutairi, Khalid Alsaleem, Hanaa Banjar, Fahad A. Bashiri, Abdulaziz Bin Manee, Mona Alsaleh, Marwan Shaheen, Mohammed Fawzy, Sami Wali, Fahad Almohareb, Hisham Alkuraya, Shakir Bahzad, Ayman Shawli, Wesam Kurdi, Wajeeh Aldekhail, Somaya Alzelaye, Rand Arnaout, Abdullah Alsonbul, Sami Al-Hajjar, Saeed Hassan, Sameena Khan, Mohammed AlBalwi, Khalid Awartani, Sulaiman M. Al-Mayouf, Amal Alhashem, Hamoud Al-Mousa, Abdulaziz Alsemari, Hadeel Elbardisy, Mohamed El-Kalioby, Edward Cupler, Bandar Al-Saud, Hadeel Alghamdi, Isam Salih, Saadeh Sermin, Fahad Alsohaibaini, Shapar Nahrir, Hibah Alruwaili, Hamad Al-Zaidan, Nada Alsahan, Abdullah Alfaifi, Dalal K. Bubshait, Mohammed Nasr, Ahmed Alnahari, Ameen Tajuddin, Maged H. Hussein, Muddathir H Hamad, Asma Akilan, Afaf Alsagheir, Dorota Monies, Shamsad Shahrukh, Emadia Alaki, Tariq Abalkhail, Ahmed Sahly, Hamsa T. Tayeb, Badi Alenazi, Fowzan S. Alkuraya, Mohammed Al-Owain, Mohammed Abanemai, Ali Al-Ahmari, Maha Faden, Neama Meriki, Amal Alqasmi, Talal A. Basha, Hatem Murad, Hanna Akleh, Nabil Moghrabi, Asma I. Tahir, Abdulhadi Altalhi, Amal Jaafar, Ola Jarrad, Salah Baz, Abdullah Tamim, Ibraheem F. Abosoudah, Shazia Subhani, Manal Badawi, Raashida Sulaiman, Essam Al-Sabban, Brian F. Meyer, Talal Algoufi, Alya Qari, Mohammed Mahnashi, Hasan Al-Dhekri, Saeed Bohlega, Rafiullah Rafiullah, Naif A.M. Almontashiri, Mustafa A. Salih, Shahrukh K. Hashmi, Ibrahim Ghemlas, Zeeshan Shah, Abdullah Alashwal, Ehab Tous
Publikováno v:
The American Journal of Human Genetics. 105:879
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0365855d2d5af752e8f99d9baffcda1e
https://doi.org/10.1016/j.ajhg.2019.09.019
https://doi.org/10.1016/j.ajhg.2019.09.019
Autor:
Viviano, Frank
Publikováno v:
National Geographic. Oct2003, Vol. 204 Issue 4, p2-41. 40p. 24 Color Photographs.
Publikováno v:
Pediatrics Week; 5/5/2023, p312-312, 1p
Publikováno v:
Annals of Neurology; 1996, Vol. 40 Issue 2, p270-284, 15p
Autor:
Karen Elliott House
From the Pulitzer Prize–winning reporter who has spent the last thirty years writing about Saudi Arabia—as diplomatic correspondent, foreign editor, and then publisher of The Wall Street Journal—an important and timely book that explores all fa
