Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Asma Akilan"'
Autor:
Nada Derar, John A. Sayer, Khushnooda Ramzan, Gawaher Almutairi, Bashayer Saeed, Hanifa Bukhari, Nora Almuhana, Rubina Khan, Laila Alquayt, Maha Tulbah, Rafiullah Rafiullah, Maisoon Almugbel, Saja S Alamri, Dorota Monies, Faiqa Imtiaz, Asma Akilan, Abrar AlKhalifah, Mirna Assoum, Rana Akili, Fahad Hakami, Samia AlDawoud, Wardah AlMubarak, Zuhair Rahbeeni, Afaf Al-Otaibi, Amal AlShammasi, Wesam Kurdi, Samia Hagos, Maha Alnemer, Nada Alsahan, Hadeel Elbardisy, Wafaa Ali, Mohannad Ali, Mohamed Abouelhoda, Mohamed H Al-Hamed, Zeeshan Shah
Publikováno v:
Human Genetics. 141:101-126
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62727c75f16b3614a697df65b5799d2b
https://doi.org/10.1007/s00439-021-02406-9
https://doi.org/10.1007/s00439-021-02406-9
Autor:
Mohamed Al-Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha AlNemer, Nada AlSahan, Maisoon AlMugbel, Rafiullah Rafiullah, Mirna Assoum, Zuhair Rahbeeni, Nada Derar, Fahad Hakami, Gawaher Almutairi, Afaf AlOtaibi, Wafaa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, Bashayer Saeed, Hanifa Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, Hadeel Elbardisy, Asma Akilan, Nora Almuhana, Abrar AlKhalifah, Khushnooda Ramzan, John A. Sayer, Faiqa Imtiaz
Background Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28c479d7a38d1c84b474c12a6461390d
https://doi.org/10.21203/rs.3.rs-828519/v1
https://doi.org/10.21203/rs.3.rs-828519/v1
Autor:
Mohamed H, Al-Hamed, Wesam, Kurdi, Rubina, Khan, Maha, Tulbah, Maha, AlNemer, Nada, AlSahan, Maisoon, AlMugbel, Rafiullah, Rafiullah, Mirna, Assoum, Dorota, Monies, Zeeshan, Shah, Zuhair, Rahbeeni, Nada, Derar, Fahad, Hakami, Gawaher, Almutairi, Afaf, AlOtaibi, Wafaa, Ali, Amal, AlShammasi, Wardah, AlMubarak, Samia, AlDawoud, Saja, AlAmri, Bashayer, Saeed, Hanifa, Bukhari, Mohannad, Ali, Rana, Akili, Laila, Alquayt, Samia, Hagos, Hadeel, Elbardisy, Asma, Akilan, Nora, Almuhana, Abrar, AlKhalifah, Mohamed, Abouelhoda, Khushnooda, Ramzan, John A, Sayer, Faiqa, Imtiaz
Publikováno v:
Human genetics. 141(1)
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05f5ca1e35538c0d0a604ebde41b5b6c
https://pubmed.ncbi.nlm.nih.gov/34853893
https://pubmed.ncbi.nlm.nih.gov/34853893
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:
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:
Al-Hamed, Mohamed H., Kurdi, Wesam, Khan, Rubina, Tulbah, Maha, AlNemer, Maha, AlSahan, Nada, AlMugbel, Maisoon, Rafiullah, Rafiullah, Assoum, Mirna, Monies, Dorota, Shah, Zeeshan, Rahbeeni, Zuhair, Derar, Nada, Hakami, Fahad, Almutairi, Gawaher, AlOtaibi, Afaf, Ali, Wafaa, AlShammasi, Amal, AlMubarak, Wardah, AlDawoud, Samia
Publikováno v:
Human Genetics; Jan2022, Vol. 141 Issue 1, p101-126, 26p