نتائج البحث - Talal Algoufi

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  1. 1
    Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

    Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants حسب Sateesh Maddirevula, Hamoud Alhebbi, Awad Alqahtani, Talal Algoufi, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Mohammed Barr, Hamad Alzaidan, Ali Almehaideb, Omai AlSasi, Amal Alhashem, Hussa Al Hussaini, Sami Wali, Fowzan S. Alkuraya

    منشور في 2018
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    Artigo
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  2. 2
    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract حسب Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O. Khan, Talal Algoufi, Mohammed Al‐Owain, Eissa Faqeih, Muneera J. Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A. Aldahmesh, Salil A. Lachke, Fowzan S. Alkuraya

    منشور في 2016
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    Artigo
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  3. 3
    Genotype correlates with the natural history of severe bile salt export pump deficiency

    Genotype correlates with the natural history of severe bile salt export pump deficiency حسب Daan van Wessel, Richard J. Thompson, Emmanuel Gonzalès, Irena Jankowska, Étienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter C. Bröering, Talal Algoufi, Nejat Mazhar, Emanuele Nicastro, Déirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Çiğdem Arıkan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Gonçalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer‐Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsöfi, Pier Luigi Calvo, Enke Grabhorn, Ekkehard Sturm, Wendy J. van der Woerd, Binita M. Kamath, Jian‐She Wang, Liting Li, Özlem Durmaz, Zerrin Önal, Ton M.G. Bunt, Bettina E. Hansen, Henkjan J. Verkade

    منشور في 2020
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    Artigo
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  4. 4
    Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

    Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency حسب Daan van Wessel, Richard J. Thompson, Emmanuel Gonzalès, Irena Jankowska, Benjamin L. Shneider, Étienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter C. Bröering, Talal Algoufi, Nejat Mazhar, Emanuele Nicastro, Déirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Çiğdem Arıkan, Dominique Debray, Florence Lacaille, Cristina Gonçalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer‐Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsöfi, Pier Luigi Calvo, Dorothée Krebs-Schmitt, Steffen Hartleif, Wendy L. van der Woerd, Jianshe Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jiménez‐Rivera, Seema Alam, Mara Cananzi, Noémie Laverdure, Cristina Targa Ferreira, Felipe Ordonez, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey‐Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesús Quintero, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick McKiernan, Philip Rosenthal, Yumirle P. Turmelle, Girish S. Rao, Simon Horslen, Binita M. Kamath, Maria Rogalidou, Wikrom Karnsakul, Bettina E. Hansen, Henkjan J. Verkade

    منشور في 2021
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    Artigo
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  5. 5
    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes حسب Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair N. Al‐Hassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al‐Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Hamad Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Al‐Younes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K. Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y. El Khashab, Hamoud Al‐Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid A. Alsaleem, Talal A. Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al‐Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Al‐Dhekri, Ali Almehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal AlQassmi, Maisoon Almugbel, Mohammed Alquaiz, Abdulaziz Alsaman, Khalid Al‐Thihli, Raashda A. Sulaiman, Wajeeh Aldekhail, Abeer Al‐Saegh, Fahad A. Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Al‐Sebayel, Muddathir H. Hamad, László Szönyi, Faisal Abaalkhail, Sulaiman M. Al‐Mayouf, Hamad Al‐Mojalli, Khalid Alqadi, Hussien Elsiesy, Taghreed Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz Al‐Ghonaium, Turki M. Al-Kharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh Sheikh, Fahad Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed Alenizi, Maged H. Hussein, Saeed Hassan, Mohamed M.I. Khalil, Brahim Tabarki, Saad AlShahwan, Oshi Amira, Yasser Sabr, Saad Alsaadoun, Mustafa A. Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal Bubshait, Majid Alfadhel

    منشور في 2017
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    Artigo
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  6. 6
    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population حسب Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif A. M. Almontashiri, Mohammed Al‐Owain, Hamad Alzaidan, Moeen Al-Sayed, Shazia Subhani, Edward Cupler, Maha Faden, Amal Alhashem, Alya Qari, Aziza Chedrawi, Hisham Aldhalaan, Wesam Kurdi, Sameena Khan, Zuhair Rahbeeni, Maha Alotaibi, Ewa Goljan, Hadeel Elbardisy, Mohamed El-Kalioby, Zeeshan Shah, Hibah Alruwaili, Amal Jaafar, Ranad Albar, Asma Akilan, Hamsa T. Tayeb, Asma I. Tahir, Fawzy Mohamed, Mohammed A. F. Nasr, Shaza Makki, Abdullah Alfaifi, Hanna Akleh, Suad Al Yamani, Dalal Bubshait, Mohammed Mahnashi, Talal A. Basha, Afaf Alsagheir, Musad Abu Khaled, Khalid A. Alsaleem, Maisoon Almugbel, Manal Badawi, Fahad A. Bashiri, Saeed Bohlega, Raashida Sulaiman, Ehab Tous, Syed A. Ahmed, Talal Algoufi, Hamoud Al‐Mousa, Emadia Alaki, Susan Alhumaidi, Hadeel Alghamdi, Malak Alghamdi, Ahmed N. Sahly, Shapar Nahrir, Ali Alahmari, Hisham Alkuraya, Ali Almehaidib, Mohammed Abanemai, Fahad Alsohaibaini, Bandar Al‐Saud, Rand Arnaout, Ghada M. H. Abdel‐Salam, Hasan Al‐Dhekri, Suzan A. AlKhater, Khalid Alqadi, Essam Al‐Sabban, Turki Alshareef, Khalid Awartani, Hanaa Banjar, Nada Alsahan, Ibraheem Abosoudah, Abdullah Al‐Ashwal, Wajeeh Aldekhail, Sami Al-Hajjar, Sulaiman M. Al‐Mayouf, Abdulaziz Alsemari, Walaa Alshuaibi, Saeed M Al-Tala, Abdulhadi Altalhi, Salah Baz, Muddathir H. Hamad, Tariq Abalkhail, Badi Alenazi, Alya Alkaff, Fahad Almohareb, Fuad Al Mutairi, Mona Alsaleh, Abdullah Alsonbul, Somaya Alzelaye, Shakir Bahzad, Abdulaziz Bin Manee, Ola Jarrad, Neama Meriki, Bassem Albeirouti, Amal Alqasmi, Mohammed Al Balwi, Nawal Makhseed

    منشور في 2019
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    Artigo
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  7. 7
    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population حسب Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif A. M. Almontashiri, Mohammed Al‐Owain, Hamad Alzaidan, Moeen Al-Sayed, Shazia Subhani, Edward Cupler, Maha Faden, Amal Alhashem, Alya Qari, Aziza Chedrawi, Hisham Aldhalaan, Wesam Kurdi, Sameena Khan, Zuhair Rahbeeni, Maha Alotaibi, Ewa Goljan, Hadeel Elbardisy, Mohamed El-Kalioby, Zeeshan Shah, Hibah Alruwaili, Amal Jaafar, Ranad Albar, Asma Akilan, Hamsa T. Tayeb, Asma I. Tahir, Mohamed Fawzy, Mohammed A. F. Nasr, Shaza Makki, Abdullah Alfaifi, Hanna Akleh, Suad Al Yamani, Dalal Bubshait, Mohammed Mahnashi, Talal A. Basha, Afaf Alsagheir, Musad Abu Khaled, Khalid A. Alsaleem, Maisoon Almugbel, Manal Badawi, Fahad A. Bashiri, Saeed Bohlega, Raashida Sulaiman, Ehab Tous, S. Faisal Ahmed, Talal Algoufi, Hamoud Al‐Mousa, Emadia Alaki, Susan Alhumaidi, Hadeel Alghamdi, Malak Alghamdi, Ahmed N. Sahly, Shapar Nahrir, Ali Alahmari, Hisham Alkuraya, Ali Almehaidib, Mohammed Abanemai, Fahad Alsohaibaini, Bandar Al‐Saud, Rand Arnaout, Ghada M. H. Abdel‐Salam, Hasan Al‐Dhekri, Suzan A. AlKhater, Khalid Alqadi, Essam Al‐Sabban, Turki Alshareef, Khalid Awartani, Hanaa Banjar, Nada Alsahan, Ibraheem Abosoudah, Abdullah Al‐Ashwal, Wajeeh Aldekhail, Sami Al-Hajjar, Sulaiman M. Al‐Mayouf, Abdulaziz Alsemari, Walaa Alshuaibi, Saeed M Al-Tala, Abdulhadi Altalhi, Salah Baz, Muddathir H. Hamad, Tariq Abalkhail, Badi Alenazi, Alya Alkaff, Fahad Almohareb, Fuad Al Mutairi, Mona Alsaleh, Abdullah Alsonbul, Somaya Alzelaye, Shakir Bahzad, Abdulaziz Bin Manee, Ola Jarrad, Neama Meriki, Bassem Albeirouti, Amal Alqasmi, Mohammed Al Balwi, Nawal Makhseed

    منشور في 2019
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    Errata/Corrigenda
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