Որոնման արդյունքները - Mohamed Abouelhoda

  • Ցուցադրվում են 1 - 19 արդյունքները 19
Հստակեցնել արդյունքները
  1. 1
    Revisiting the morbid genome of Mendelian disorders

    Revisiting the morbid genome of Mendelian disorders ‌ Mohamed Abouelhoda, Tariq Faquih, Mohamed El-Kalioby, Fowzan S. Alkuraya

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  2. 2
    Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel

    Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel ‌ Ali S. Alzahrani, Meshael Alswailem, Anwar Ali Alswailem, Hindi Al‐Hindi, Ewa Goljan, Nourah Alsudairy, Mohamed Abouelhoda

    Հրապարակվել է 2020
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
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  3. 3
    High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots

    High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried... ‌ Hamoud Al‐Mousa, Ghadah Aldakheel, Amal Jabr, Fahd El‐Badaoui, Mohamed Abouelhoda, Mansoor Ali Baig, Dorota Monies, Brian F. Meyer, Abbas Hawwari, Majed Dasouki

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  4. 4
    Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

    Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden ‌ Mohamed Abouelhoda, Turki M. Sobahy, Mohamed El-Kalioby, Nisha Patel, Hanan E. Shamseldin, Dorota Monies, Nada Al Tassan, Khushnooda Ramzan, Faiqa Imtiaz, Ranad Shaheen, Fowzan S. Alkuraya

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  5. 5
    Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

    Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency ‌ Anas M. Alazami, Maryam Al-Helale, Safa Alhissi, Bandar Al‐Saud, Huda Alajlan, Dorota Monies, Zeeshan Shah, Mohamed Abouelhoda, Rand Arnaout, Hasan Al‐Dhekri, Nouf S. Al‐Numair, Hazem Ghebeh, Farrukh Sheikh, Hamoud Al‐Mousa

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  6. 6
    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation ‌ Dorota Monies, Sateesh Maddirevula, Wesam Kurdi, Mohammed H. Alanazy, Hisham Alkhalidi, Mohammed Al‐Owain, Raashda A. Sulaiman, Eissa Faqeih, Ewa Goljan, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Ranad Shaheen, Stefan T. Arold, Fowzan S. Alkuraya

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Errata/Corrigenda
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  7. 7
    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 ‌ 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

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  8. 8
    Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

    Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families ‌ Bashayer Al‐Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham Aldhalaan, Mohammed S. Al‐Dosari, Michael Nester, Hussain Al-Shamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma I. Tahir, Sultana M. Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  9. 9
    Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease

    Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease ‌ Eman A.A. Al Yemni, Dorota Monies, Thamer Alkhairallah, Saeed Bohlega, Mohamed Abouelhoda, Amna Magrashi, Abeer E. Mustafa, Basma Al-Abdulaziz, Mohamed H. Al‐Hamed, Batoul Baz, Ewa Goljan, Renad Albar, Amjad Jabaan, Tariq Faquih, Shazia Subhani, Wafa Ali Eltayb, Jameela Shinwari, Bashayer Al‐Mubarak, Nada Al Tassan

    Հրապարակվել է 2019
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  10. 10
    Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

    Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development ‌ Michael S. Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, Saud Alsahli, Angela F. Brady, Anaïs Begemann, Tsunehiro Mizushima, Francisco J. Guzmán‐Vega, Miki Obata, Yoshinobu Ichimura, Hessa S. Alsaif, Shams Anazi, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Dorota Monies, Mohamed Abouelhoda, Brian F. Meyer, Majid Alfadhel, Wafa Eyaid, Markus Zweier, Katharina Steindl, Anita Rauch, Stefan T. Arold, C. Geoffrey Woods, Masaaki Komatsu, Fowzan S. Alkuraya

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  11. 11
    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies ‌ 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

    Հրապարակվել է 2015
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  12. 12
    KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

    KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome ‌ Anna A. W. M. Sanders, Erik de Vrieze, Anas M. Alazami, Fatema Alzahrani, Erik B. Malarkey, Nasrin Sorusch, Lars Tebbe, Stefanie Kuhns, Teunis J. P. van Dam, Amal Alhashem, Brahim Tabarki, Qianhao Lu, Nils J. Lambacher, Julie Kennedy, Rachel V. Bowie, Lisette Hetterschijt, Sylvia E. C. van Beersum, Jeroen van Reeuwijk, Karsten Boldt, Hannie Kremer, Robert A. Kesterson, Dorota Monies, Mohamed Abouelhoda, Ronald Roepman, Martijn A. Huynen, Marius Ueffing, Robert B. Russell, Uwe Wolfrum, Bradley K. Yoder, Erwin van Wijk, Fowzan S. Alkuraya, Oliver E. Blacque

    Հրապարակվել է 2015
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  13. 13
    Characterizing the morbid genome of ciliopathies

    Characterizing the morbid genome of ciliopathies ‌ Ranad Shaheen, Katarzyna Szymańska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al‐Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David Parry, Nada Al Tassan, Dorota Monies, André Mégarbané, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  14. 14
    Expanding the genetic heterogeneity of intellectual disability

    Expanding the genetic heterogeneity of intellectual disability ‌ Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Yasmine T. Asi, Saud Alsahli, Amal Alhashem, Hanan E. Shamseldin, Fatema Alzahrani, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadia Alhashmi, Fathiya Al Murshedi, Adila Al Kindy, Ahmad Alshaer, Ahmed Al Rumayyan, Saeed Al Tala, Wesam Kurdi, Abdulaziz Alsaman, Ali Alasmari, Selina Banu, Tipu Sultan, Mohammed M. Saleh, Hisham Alkuraya, Mustafa A. Salih, Hesham Aldhalaan, Tawfeg Ben‐Omran, Fatima Al Musafri, Rehab Ali, Jehan Suleiman, Brahim Tabarki, Ayman W. El‐Hattab, Caleb Bupp, Majid Alfadhel, Nada Al Tassan, Dorota Monies, Stefan T. Arold, Mohamed Abouelhoda, Tammaryn Lashley, Henry Houlden, Eissa Faqeih, Fowzan S. Alkuraya

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  15. 15
    Autozygome and high throughput confirmation of disease genes candidacy

    Autozygome and high throughput confirmation of disease genes candidacy ‌ Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al‐Owain, Mohammad A. Al Muhaizea, Husam Kayyali, Amal Alhashem, Zuhair Rahbeeni, Maha Alotaibi, Hamad Alzaidan, Ameera Balobaid, Heba Y. El Khashab, Dalal Bubshait, Maha Faden, Suad Al Yamani, Omar Dabbagh, Mariam Almureikhi, Abdulla Al Jasser, Hessa S. Alsaif, Iram Alluhaydan, Mohammed Zain Seidahmed, Bashair Alabbasi, Ibrahim Al‐Mogarri, Wesam Kurdi, Hana Akleh, Alya Qari, Saeed M. Al Tala, Suzan Alhomaidi, Amal Y. Kentab, Mustafa A. Salih, Aziza Chedrawi, Seham Alameer, Brahim Tabarki, Hanan E. Shamseldin, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Menasria Samira, Ewa Goljan, Mohamed Abouelhoda, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Saad AlShahwan, Majid Alfadhel, Tawfeg Ben‐Omran, Mohammad M. Al‐Qattan, Dorota Monies, Fowzan S. Alkuraya

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  16. 16
    Genomic and phenotypic delineation of congenital microcephaly

    Genomic and phenotypic delineation of congenital microcephaly ‌ Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Saeed Al Tala, Amal Alhashem, Ameen Softah, Mohammed Al‐Owain, Anas M. Alazami, Basma Abadel, Nisha Patel, Tarfa Al‐Sheddi, Rana Alomar, Eman Alobeid, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Muddathir H. Hamad, Brahim Tabarki, Ali H. Alwadei, Fahad Al-Hazzani, Fahad A. Bashiri, Amal Y. Kentab, Serdar Şahintürk, Elliott H. Sherr, Brieana Fregeau, Samira Sogati, Saad AlShahwan, Salwa Alkhalifi, Zainab Alhumaidi, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Katta M. Girisha, Maha Tulbah, Mohammed Zain Seidahmed, Mustafa A. Salih, Mohamed Abouelhoda, Afaque A. Momin, Muna Al Saffar, Jennifer N. Partlow, Stefan T. Arold, Eissa Faqeih, Christopher A. Walsh, Fowzan S. Alkuraya

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  17. 17
    Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

    Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families ‌ 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

    Հրապարակվել է 2014
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  18. 18
    Expanding the phenome and variome of skeletal dysplasia

    Expanding the phenome and variome of skeletal dysplasia ‌ Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E. Shamseldin, Shams Anazi, Nour Ewida, Hessa S. Alsaif, Jawahir Y. Mohamed, Anas M. Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera J. Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona Aglan, Muddathir H. Hamad, Mustafa A. Salih, Ahlam A. Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M. H. Abdel‐Salam, Hisham Alkuraya, Winnie Ong Peitee, Wee Teik Keng, Abdullah Qasem, Aziza Mushiba, Maha S. Zaki, Mahmoud R. Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia A. Temtamy, Alka V. Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A. Otaify, Khalda Amr, Saeed Al Tala, Arif O. Khan, Tamer Rizk, Aida I. Al‐Aqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S. Alkuraya

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  19. 19
    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 ‌ 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

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:

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