Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Afaf Al-Otaibi"'
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:
Afaf Al-Otaibi, Mohammed A. Aldahmesh, Banan Al-Younes, Sawsan R. Nowailaty, Ewa A. Naim, Saad Al-Dahmash, Marwan A. Abouammoh, Mais Hashem, Faisal S. BinHumaid, Mohamed Abouelhoda, Hisham Alkuraya, Corina Shtir, A. S. Altamimi, Fowzan S. Alkuraya, Emad B. Abboud, F. H. Alamer, Ghazai Al-Thubaiti, Dorota Monies
Publikováno v:
Human Genetics. 135:193-200
Diabetic retinopathy (DR) is a common clinical expression of diabetes mellitus-induced vasculopathy and is a major cause of vision loss. Significant gaps remain in our understanding of the molecular pathoetiology of DR, and it is hoped that human gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2488c3c9828dd53fd2009a52c0ce252e
https://doi.org/10.1007/s00439-015-1624-8
https://doi.org/10.1007/s00439-015-1624-8
Autor:
Amal Jaber, Hasan Al-Dhekri, Saleh Al-Muhsen, Bandar Al-Saud, Afaf Al-Otaibi, Safa Alhissi, Muna M. Al Breacan, Nazema Ades, Maryam Al-Helale, Rana Kattan, Nada Al-Tassan, Mofareh AlZahrani, Shazia Subhani, Lina El-Baik, Rand Arnaout, Farrukh Sheikh, Brian F. Meyer, Salma M. Wakil, Mohamed El-Kalioby, Mohamed Abouelhoda, Tariq Faquih, Noukha Alnader, Majed Dasouki, Haya Al-Dusery, Khalid Al Abdelrahman, Eman Al Idrissi, Tanzeil Elamin, Abbas Hawwari, Dorota Monies, Fadi Alzayer, Sulaiman Al Gazlan, Faisal S. Bin Humaid, Sahar Elshorbagi, A. Al-Ghonaium, Omnia Kheir, Hamoud Al-Mousa
Publikováno v:
The Journal of allergy and clinical immunology. 137(6)
Background Molecular genetics techniques are an essential diagnostic tool for primary immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides a comprehensive way of concurrently screening a large number of PID genes. Ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a77f0bbe6ca9e4230059b4936db9efba
https://pubmed.ncbi.nlm.nih.gov/26915675
https://pubmed.ncbi.nlm.nih.gov/26915675