Torthaí cuardaigh - Leen Abu‐Safieh

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  1. 1
    A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)

    A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11) de réir Eranga N. Vithana, Leen Abu‐Safieh, Maxine Allen, Alisoun H. Carey, Myrto Papaioannou, Christina Chakarova, Mai Al-Maghtheh, Neil D. Ebenezer, Catherine Willis, Anthony T. Moore, A.C. Bird, David M. Hunt, Shomi S. Bhattacharya

    Foilsithe / Cruthaithe 2001
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  2. 2
    ACVR1C/SMAD2 signaling promotes invasion and growth in retinoblastoma

    ACVR1C/SMAD2 signaling promotes invasion and growth in retinoblastoma de réir Laura Asnaghi, David T. White, Nolan Key, Joshua Choi, Alka Mahale, Hind M. Alkatan, Deepak P. Edward, Sahar M. Elkhamary, Saleh Al-Mesfer, Azza Maktabi, Christopher Hurtado, Grace Y. Lee, Ángel M. Carcaboso, Jeff S. Mumm, Leen Abu Safieh, Charles G. Eberhart

    Foilsithe / Cruthaithe 2018
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  3. 3
    Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

    Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa de réir Christina Chakarova, Matthew M. Hims, Hanno J. Bolz, Leen Abu‐Safieh, Reshma Patel, Myrto Papaioannou, Chris F. Inglehearn, T J Keen, Catherine Willis, Anthony T. Moore, Thomas Rosenberg, Andrew R. Webster, Alan C. Bird, Andreas Gal, David M. Hunt, Eranga N. Vithana, Shomi S. Bhattacharya

    Foilsithe / Cruthaithe 2002
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  4. 4
    EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

    EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa de réir Mai M. Abd El-Aziz, Isabel Barragán, C. O'Driscoll, Leo Goodstadt, Elena Prigmore, Salud Borrego, Marcela Mena, Juan I. Pieras, Mohamed F. El-Ashry, Leen Abu Safieh, Amna Shah, Michael E. Cheetham, Nigel P. Carter, Christina Chakarova, Chris P. Ponting, Shomi S. Bhattacharya, Guillermo Antiñolo

    Foilsithe / Cruthaithe 2008
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  5. 5
    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes de réir 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

    Foilsithe / Cruthaithe 2012
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  6. 6
    In search of triallelism in Bardet–Biedl syndrome

    In search of triallelism in Bardet–Biedl syndrome de réir Leen Abu‐Safieh, Shamsa Al-Anazi, Lama AlAbdi, Mais Hashem, Hisham Alkuraya, Mushari Alamr, Mugtaba O Sirelkhatim, Zuhair N. Al‐Hassnan, Basim Alkuraya, Jawahir Y. Mohamed, Ahmad Al-Salem, May Alrashed, Eissa Faqeih, Ameen Softah, Amal Alhashem, Sami Wali, Zuhair Rahbeeni, Moeen Al-Sayed, Arif O. Khan, Lihadh Al‐Gazali, Peter E.M. Taschner, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Foilsithe / Cruthaithe 2012
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  7. 7
    Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19

    Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19 de réir Gundula Povysil, Guillaume Butler‐Laporte, Ning Shang, Chen Wang, Atlas Khan, Manal Alaamery, Tomoko Nakanishi, Sirui Zhou, Vincenzo Forgetta, Robert Eveleigh, Mathieu Bourgey, Naveed Aziz, Steven J.M. Jones, Bartha Maria Knoppers, Stephen W. Scherer, Lisa J. Strug, Pierre Lepage, Jiannis Ragoussis, Guillaume Bourque, Jahad Alghamdi, Nora Aljawini, Nour Albes, Hani Al-Afghani, Bader Alghamdi, Mansour Almutairi, Ebrahim Mahmoud, Leen Abu‐Safieh, Hadeel El Bardisy, Fawz S. Al Harthi, Abdulraheem Alshareef, Bandar A. Suliman, Saleh A. Alqahtani, Abdulaziz Almalik, May Alrashed, Salam Massadeh, Vincent Mooser, Mark Lathrop, Fawzy Mohamed, Yaseen M. Arabi, Hamdi Mbarek, Chadi Saad, Wadha Al‐Muftah, Junghyun Jung, Serghei Mangul, Radja Badji, Asma Al Thani, Said I. Ismail, Ali G. Gharavi, Malak Abedalthagafi, J. Brent Richards, David B. Goldstein, Krzysztof Kiryluk

    Foilsithe / Cruthaithe 2021
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  8. 8
    A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

    A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome de réir Tin Aung, Mineo Ozaki, Takanori Mizoguchi, R. Rand Allingham, Zheng Li, Aravind Haripriya, S Nakano, Steffen Uebe, Jeffrey M. Harder, Anita Chan, Mei Lee, Kathryn P. Burdon, Yury S. Astakhov, Khaled K. Abu‐Amero, Juan Carlos Zenteno, Nilgün Yıldırım, Tomasz Żarnowski, Mohammad Pakravan, Leen Abu Safieh, Liyun Jia, Ya Xing Wang, Susan Williams, Daniela Paoli, Patricio G. Schlottmann, Lulin Huang, Kar Seng Sim, Jia Nee Foo, Masakazu Nakano, Yoko Ikeda, Rajesh S. Kumar, Morio Ueno, Shin-ichi Manabe, Ken Hayashi, Shigeyasu Kazama, Ryuichi Ideta, Yosai Mori, Kazunori Miyata, Kazuhisa Sugiyama, Tomomi Higashide, Etsuo Chihara, Kenji Inoue, Satoshi Ishiko, Akitoshi Yoshida, Masahide Yanagi, Yoshiaki Kiuchi, Makoto Aihara, Tsutomu Ōhashi, Toshiya Sakurai, Takako Sugimoto, Hideki Chuman, Fumihiko Matsuda, Kenji Yamashiro, Norimoto Gotoh, Masahiro Miyake, Sergei Astakhov, Essam A. Osman, Saleh A. Al‐Obeidan, Ohoud Owaidhah, Leyla Ali Aljasim, Sami Al Shahwan, Rhys A Fogarty, Paul Leo, Yetkin Yaz, Oğuz Çilingir, Mozhgan Rezaei Kanavi, Afsaneh Naderi Beni, Shahin Yazdani, Evgeny L. Akopov, Kai Yee Toh, Gareth R. Howell, Andrew Orr, Yufen Goh, Wee Yang Meah, Su Qin Peh, Ewa Kosior‐Jarecka, Urszula Łukasik, Mandy Krumbiegel, Eranga N. Vithana, Tien Yin Wong, Yutao Liu, Allison E Ashley Koch, Pratap Challa, Robyn M. Rautenbach, David A. Mackey, Alex W. Hewitt, Paul Mitchell, Jie Jin Wang, Ari Ziskind, Trevor Carmichael, Ramakrishnan Rangappa, Kalpana Narendran, Rangaraj Venkatesh, Saravanan Vijayan, Peiquan Zhao, Xueyi Chen, Dalia Guadarrama-Vallejo, Ching‐Yu Cheng, Shamira Perera, Rahat Husain, Su-Ling Ho

    Foilsithe / Cruthaithe 2015
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