Rezultati - Shamsa Anazi
- Showing 1 - 7 results of 7
-
1
-
2
Mutations in LRPAP1 Are Associated with Severe Myopia in Humans od Mohammed A. Aldahmesh, Arif O. Khan, Hisham Alkuraya, Nouran Adly, Shamsa Anazi, Ahmed A. Al-Saleh, Jawahir Y. Mohamed, Hadia Hijazi, Sarita Prabakaran, Marlene Tacke, Abdullah Al-Khrashi, Mais Hashem, Thomas Reinheckel, Abdullah M. Assiri, Fowzan S. Alkuraya
Izdano 2013Artigo -
3
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes od Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O. Khan, Mohammed Al‐Owain, Jawahir Al-Zahrani, Lama AlAbdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D. Ray-Zack, Malik Nassan, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah S. Al-Kharashi, Emad B. Abboud, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya
Izdano 2012Artigo -
4
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort od Ranad Shaheen, Nisha Patel, Hanan E. Shamseldin, Fatema Alzahrani, Ruah Alyamany, Agaadir Al Moisheer, Nour Ewida, Shamsa Anazi, Maha Alnemer, Mohamed A. El‐Sheikh, Khaled Alfaleh, Muneera J. Alshammari, Amal Alhashem, Abdullah Alangari, Mustafa A. Salih, Martin Kircher, Riza M. Daza, Niema Ibrahim, Salma M. Wakil, Ahmed Alaqeel, Ikhlas Altowaijri, Jay Shendure, Amro Al-Habib, Eissa Faqieh, Fowzan S. Alkuraya
Izdano 2015Artigo -
5
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies od Nisha Patel, Mohammed A. Aldahmesh, Hisham Alkuraya, Shamsa Anazi, Hadeel Alsharif, Arif O. Khan, Asma Sunker, Saleh Al-mohsen, Emad B. Abboud, Sawsan R. Nowilaty, Mohammed Al‐Owain, Hamad Alzaidan, Bandar Al‐Saud, Ali Alasmari, Ghada M. H. Abdel‐Salam, Mohamed Abouelhoda, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Abeer Al‐Mostafa, Abdulelah AlIssa, Mais Hashem, Olga Buzovetsky, Yong Xiong, Dorota Monies, Nada Al Tassan, Ranad Shaheen, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya
Izdano 2015Artigo -
6
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families od Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al‐Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera J. Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al‐Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad‐Hani Temsah, Maha Tulbah, Rasha Aljelaify, Saad AlShahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al‐Hassnan, Ghada M. H. Abdel‐Salam, Nouriya Al‐Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman Aldeeri, Dorota Monies, Fowzan S. Alkuraya
Izdano 2014Artigo -
7
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes od Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymańska, Thanh-Minh T. Nguyen, Hilary Racher, Ian G. Phelps, Grischa Toedt, Julie Kennedy, Kirsten A Wunderlich, Nasrin Sorusch, Zakia A. Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David Parry, Stef J.F. Letteboer, Susanne Roosing, Matthew Adams, Sandra Bell, Jacquelyn Bond, J. William Higgins, Ewan E. Morrison, Darren C. Tomlinson, Gisela G. Slaats, Teunis J. P. van Dam, Lijia Huang, Kristin Kessler, Andreas Gießl, Clare V. Logan, Evan A. Boyle, Jay Shendure, Shamsa Anazi, Mohammed A. Aldahmesh, Selwa Al Hazzaa, Robert A. Hegele, Carole Ober, Patrick Frosk, Aizeddin Mhanni, Bernard N. Chodirker, Albert E. Chudley, Ryan E. Lamont, François Bernier, Chandree L. Beaulieu, Paul M. Gordon, Richard T. Pon, Clem Donahue, A. James Barkovich, Louis Wolf, Carmel Toomes, Christian T. Thiel, Kym M. Boycott, Martin McKibbin, Chris F. Inglehearn, Fiona Stewart, Heymut Omran, Martijn A. Huynen, Panagiotis I. Sergouniotis, Fowzan S. Alkuraya, Jillian S. Parboosingh, A. Micheil Innes, Colin E. Willoughby, Rachel H. Giles, Andrew R. Webster, Marius Ueffing, Oliver E. Blacque, Joseph G. Gleeson, Uwe Wolfrum, Philip L. Beales, Toby J. Gibson, Dan Doherty, Hannah M. Mitchison, Ronald Roepman, Colin A. Johnson
Izdano 2015Artigo
Iskalna orodja:
Sorodne teme
Biology
Genetics
Gene
Phenotype
Exome sequencing
Medicine
Exome
Candidate gene
Bioinformatics
Disease
Genetic heterogeneity
Locus (genetics)
Mutation
Retinitis pigmentosa
Allele
Allelic heterogeneity
Cell biology
Ciliogenesis
Ciliopathies
Ciliopathy
Cilium
Computational biology
Context (archaeology)
Disease gene identification
Dystrophy
Evolutionary biology
Genome
Internal medicine
Joubert syndrome
Locus heterogeneity