Хайлтын үр дүнгүүд - Niema Ibrahim

Үр дүнг сайжруулах
  1. 1
    Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

    Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly -н Jawahir Y. Mohamed, Eissa Faqeih, Abdulmonem Alsiddiky, Muneera J. Alshammari, Niema Ibrahim, Fowzan S. Alkuraya

    Хэвлэсэн 2013
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  2. 2
    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy -н Hanan E. Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen, Fowzan S. Alkuraya

    Хэвлэсэн 2016
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  3. 3
    GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

    GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition -н Hanan E. Shamseldin, Ikuo Masuho, Ahmed Alenizi, Suad Alyamani, Dipak N. Patil, Niema Ibrahim, Kirill A. Martemyanov, Fowzan S. Alkuraya

    Хэвлэсэн 2016
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  4. 4
    Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

    Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2 -н Sateesh Maddirevula, Serdar Coşkun, Saad S. M. Hassan, Atif Elnour, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Stefan T. Arold, Fowzan S. Alkuraya

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  5. 5
    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 -н 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

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  6. 6
    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 -н 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

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  7. 7
    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families -н Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed M Kurdi, Zainab Babay, Dalal Bubshait, Niema Ibrahim, Firdous Abdulwahab, Zuhair Rahbeeni, Mais Hashem, Fowzan S. Alkuraya

    Хэвлэсэн 2015
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  8. 8
    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 -н 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

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Errata/Corrigenda
    Жагсаалт руу хадгалах
    -д хадгалсан:
  9. 9
    A genomics approach to male infertility

    A genomics approach to male infertility -н Naif Alhathal, Sateesh Maddirevula, Serdar Coşkun, Hamed Alali, Mirna Assoum, T.J. Morris, Hesham A. Deek, Soha A. Hamed, Shaheed Alsuhaibani, Abdulmalik Mirdawi, Nour Ewida, Mashael Alqahtani, Niema Ibrahim, Firdous Abdulwahab, Waleed Altaweel, Majed Dasouki, Abdullah M. Assiri, Wafa Qabbaj, Fowzan S. Alkuraya

    Хэвлэсэн 2020
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  10. 10
    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract -н 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

    Хэвлэсэн 2016
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  11. 11
    Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency

    Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency -н Mohammed F. Alosaimi, Manfred Hoenig, Faris Jaber, Craig D. Platt, Jennifer Jones, Jacqueline G. Wallace, Klaus‐Michael Debatin, Ansgar Schulz, E. Jacobsen, Peter M√oller, Hanan E. Shamseldin, Ferdous Abdulwahab, Niema Ibrahim, Hosam Alardati, Faisal ALMuhizi, Ibraheem Abosoudah, Talal A. Basha, Janet Chou, Fowzan S. Alkuraya, Raif S. Geha

    Хэвлэсэн 2019
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  12. 12
    Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

    Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort -н 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

    Хэвлэсэн 2015
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  13. 13
    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 -н 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

    Хэвлэсэн 2018
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  14. 14
    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics -н Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa Al‐Sheddi, Eman Alobeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya

    Хэвлэсэн 2020
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  15. 15
    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

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

    Хэвлэсэн 2015
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  16. 16
    Molecular autopsy in maternal–fetal medicine

    Molecular autopsy in maternal–fetal medicine -н 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

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  17. 17
    Characterizing the morbid genome of ciliopathies

    Characterizing the morbid genome of ciliopathies -н 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

    Хэвлэсэн 2016
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  18. 18
    The morbid genome of ciliopathies: an update

    The morbid genome of ciliopathies: an update -н 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

    Хэвлэсэн 2020
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  19. 19
    Expanding the genetic heterogeneity of intellectual disability

    Expanding the genetic heterogeneity of intellectual disability -н 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

    Хэвлэсэн 2017
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  20. 20
    Autozygome and high throughput confirmation of disease genes candidacy

    Autozygome and high throughput confirmation of disease genes candidacy -н 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

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:

Хайх хэрэгслүүд: