Výsledky vyhledávání - Tarfa Alshidi

  • Zobrazuji výsledky 1 - 8 z 8
Upřesnit hledání
  1. 1
    Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

    Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome Autor Hanan E. Shamseldin, Anna Rajab, Amal Alhashem, Ranad Shaheen, Tarfa Alshidi, Rana Alamro, Salma Al Harassi, Fowzan S. Alkuraya

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Genomic analysis of primordial dwarfism reveals novel disease genes

    Genomic analysis of primordial dwarfism reveals novel disease genes Autor Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada M. H. Abdel‐Salam, Zuhair N. Al‐Hassnan, Tarfa Alshidi, Rana Alomar, Sameera Sogaty, Fowzan S. Alkuraya

    Vydáno 2014
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder

    A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder Autor Hanan E. Shamseldin, Ali Alasmari, Mohammed A. Salih, Manar Samman, Shahzad I. Mian, Tarfa Alshidi, Niema Ibrahim, Mais Hashem, Eissa Faqeih, Futwan Al‐Mohanna, Fowzan S. Alkuraya

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

    Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice Autor Ranad Shaheen, Shams Anazi, Tawfeg Ben‐Omran, Mohammed Zain Seidahmed, L. Brianna Caddle, Kristina Palmer, Rehab Ali, Tarfa Alshidi, Samya Hagos, Leslie O. Goodwin, Mais Hashem, Salma M. Wakil, Mohamed Abouelhoda, Dilek Çolak, Stephen A. Murray, Fowzan S. Alkuraya

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Molecular autopsy in maternal–fetal medicine

    Molecular autopsy in maternal–fetal medicine Autor Hanan E. Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb A. Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Z. Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed M Kurdi, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El‐Akouri, Mariam Al Mulla, Tawfeg Ben‐Omran, Matthias Pergande, Sebahattin Çırak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S. Alkuraya

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    The morbid genome of ciliopathies: an update

    The morbid genome of ciliopathies: an update Autor Hanan E. Shamseldin, Ranad Shaheen, Nour Ewida, Dalal Bubshait, Hisham Alkuraya, Elham Almardawi, Ali Howaidi, Yasser Sabr, Ebtesam Abdalla, Abdullah Alfaifi, Jameel Alghamdi, Afaf Alsagheir, Ahmed Alfares, Heba Morsy, Maged H. Hussein, Mohammad A. Al–Muhaizea, Mohammad Shagrani, Essam Al Sabban, Mustafa A. Salih, Neama Meriki, Rubina Khan, Maisoon Almugbel, Alya Qari, Maha Tulba, Mohammed Mahnashi, Khalid Alhazmi, Abrar K. Alsalamah, Sawsan R. Nowilaty, Amal Alhashem, Mais Hashem, Firdous Abdulwahab, Niema Ibrahim, Tarfa Alshidi, Eman Alobeid, Mona Alenazi, Hamad Alzaidan, Zuhair Rahbeeni, Mohammed Al‐Owain, Sameera Sogaty, Mohammed Zain Seidahmed, Fowzan S. Alkuraya

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases Autor Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Mohammed Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al‐Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Al Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya Hagos, Wijdan Al‐Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S.A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen M. Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed‐Eddine Gallouzi, Fowzan S. Alkuraya

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

    Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families Autor Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Afaf Alsagheir, Ahmad M. Mansour, Ali Alawaji, Amal Aldhilan, Amal Alhashem, Amal Al‐Hemidan, Amira Nabil, Arif O. Khan, Aziza Aljohar, Badr Alsaleem, Brahim Tabarki, Charles Marques Lourenço, Eissa Faqeih, Essam Al Shail, Fatima Almesaifri, Fuad Al Mutairi, Hamad Alzaidan, Heba Morsy, Hind Alshihry, Hisham Alkuraya, Katta M. Girisha, Khawla Al-Fayez, Khalid Al‐Rubeaan, Lilia Kraoua, Maha Alnemer, Maha Tulbah, Maha S. Zaki, Majid Alfadhel, Mohammed Abouelhoda, Marjan M. Nezarati, Mohammad M. Al‐Qattan, Mohammad Shboul, Mohammed Abanemai, Mohammad A. Al–Muhaizea, Mohammed Al‐Owain, Mohammed Sameer Bafaqeeh, Muneera J. Alshammari, Musaad Abukhalid, Nada Alsahan, Nada Derar, Neama Meriki, Saeed Bohlega, Saeed Al Tala, Saad S. M. Hassan, Sami Wali, Sarar Mohamed, Serdar Coşkun, Sermin Saadeh, Tinatin Tkemaladze, Wesam Kurdi, Zainab Alhumaidi, Zuhair Rahbeeni, Fowzan S. Alkuraya

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: