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LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

Bohlega, Saeed A ; Alfawaz, Sarah ; Abou-Al-Shaar, Hussam ; Al-Hindi, Hindi N ; Murad, Hatem N ; Bohlega, Mohamed S ; Meyer, Brian F ; Monies, Dorota

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, September 2018, Vol.37(3), pp.221-226 [Periódico revisado por pares]

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Identification of a novel genetic locus underlying tremor and dystonia.(Report)

Monies, Dorota ; Al-Shaar, Hussam Abou ; Goljan, Ewa A. ; Al-Younes, Banan ; Al-Breacan, Muna Monther Abdullah ; Al-Saif, Maher Mohammed ; Wakil, Salma M. ; Meyer, Brian F. ; Khabar, Khalid S. A. ; Bohlega, Saeed

Human Genomics, Nov 6, 2017, Vol.11(1) [Periódico revisado por pares]

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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, Saeed

Neuromuscular Disorders, April 2014, Vol.24(4), pp.353-359 [Periódico revisado por pares]

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4
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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Wakil, Salma M ; Monies, Dorota ; Hagos, Samya ; Al-Ajlan, Fahad ; Finsterer, Josef ; Al Qahtani, Aisha ; Ramzan, Khushnooda ; Al Humaidy, Rawan ; Al-Muhaizea, Mohamed A ; Meyer, Brian ; Bohlega, Saeed A Paracchini, Silvia

Case Reports in Genetics, 2018, Vol.2018, 5 pages [Periódico revisado por pares]

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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Bohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada A

BMC research notes, 07 June 2016, Vol.9, pp.295 [Periódico revisado por pares]

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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.(Report)

Monies, Dorota ; Alhindi, Hindi N. ; Almuhaizea, Mohamed A. ; Abouelhoda, Mohamed ; Alazami, Anas M. ; Goljan, Ewa ; Alyounes, Banan ; Jaroudi, Dyala ; Alissa, Abdulelah ; Alabdulrahman, Khalid ; Subhani, Shazia ; El-Kalioby, Mohamed ; Faquih, Tariq ; Wakil, Salma M. ; Altassan, Nada A. ; Meyer, Brian F. ; Bohlega, Saeed

Human Genomics, Sept 27, 2016, Vol.10(1) [Periódico revisado por pares]

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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.(Report)

Bohlega, Saeed A. ; Abou-Al-Shaar, Hussam ; Aldakheel, Amaal ; Alajlan, Huda ; Bohlega, Balsam S. ; Meyer, Brian F. ; Monies, Dorota ; Cupler, Edward J. ; Al-Saif, Amr M.

Parkinsonism and Related Disorders, 2019, Vol.64, p.145 [Periódico revisado por pares]

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Monies, Dorota ; Abouelhoda, Mohamed ; AlSayed, Moeenaldeen ; Alhassnan, Zuhair ; Alotaibi, Maha ; Kayyali, Husam ; Al-Owain, Mohammed ; Shah, Ayaz ; Rahbeeni, Zuhair ; Al-Muhaizea, Mohammad ; Alzaidan, Hamad ; Cupler, Edward ; Bohlega, Saeed ; Faqeih, Eissa ; Faden, Maha ; Alyounes, Banan ; Jaroudi, Dyala ; Goljan, Ewa ; Elbardisy, Hadeel ; Akilan, Asma ; Albar, Renad ; Aldhalaan, Hesham ; Gulab, Shamshad ; Chedrawi, Aziza ; Al Saud, Bandar ; Kurdi, Wesam ; Makhseed, Nawal ; Alqasim, Tahani ; El Khashab, Heba ; Al-Mousa, Hamoud ; Alhashem, Amal ; Kanaan, Imaduddin ; Algoufi, Talal ; Alsaleem, Khalid ; Basha, Talal ; Al-Murshedi, Fathiya ; Khan, Sameena ; Al-Kindy, Adila ; Alnemer, Maha ; Al-Hajjar, Sami ; Alyamani, Suad ; Aldhekri, Hasan ; Al-Mehaidib, Ali ; Arnaout, Rand ; Dabbagh, Omar ; Shagrani, Mohammad ; Broering, Dieter ; Tulbah, Maha ; Alqassmi, Amal ; Almugbel, Maisoon ; AlQuaiz, Mohammed ; Alsaman, Abdulaziz ; Al-Thihli, Khalid ; Sulaiman, Raashda ; Al-Dekhail, Wajeeh ; Alsaegh, Abeer ; Bashiri, Fahad ; Qari, Alya ; Alhomadi, Suzan ; Alkuraya, Hisham ; Alsebayel, Mohammed ; Hamad, Muddathir ; Szonyi, Laszlo ; Abaalkhail, Faisal ; Al-Mayouf, Sulaiman ; Almojalli, Hamad ; Alqadi, Khalid ; Elsiesy, Hussien ; Shuaib, Taghreed ; Seidahmed, Mohammed ; Abosoudah, Ibraheem ; Akleh, Hana ; AlGhonaium, Abdulaziz ; Alkharfy, Turki ; Al Mutairi, Fuad ; Eyaid, Wafa ; Alshanbary, Abdullah ; Sheikh, Farrukh ; Alsohaibani, Fahad ; Alsonbul, Abdullah ; Al Tala, Saeed ; Balkhy, Soher ; Bassiouni, Randa ; Alenizi, Ahmed ; Hussein, Maged ; Hassan, Saeed ; Khalil, Mohamed ; Tabarki, Brahim ; Alshahwan, Saad ; Oshi, Amira ; Sabr, Yasser ; Alsaadoun, Saad ; Salih, Mustafa ; Mohamed, Sarar ; Sultana, Habiba ; Tamim, Abdullah ; El-Haj, Moayad ; Alshahrani, Saif ; Bubshait, Dalal ; Alfadhel, Majid ; Faquih, Tariq ; El-Kalioby, Mohamed ; Subhani, Shazia ; Shah, Zeeshan ; Moghrabi, Nabil ; Meyer, Brian ; Alkuraya, Fowzan

Human Genetics, 2017, Vol.136(8), pp.921-939 [Periódico revisado por pares]

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9
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Monies, Dorota ; Abouelhoda, Mohammed ; Assoum, Mirna ; Moghrabi, Nabil ; Rafiullah, Rafiullah ; Almontashiri, Naif ; Alowain, Mohammed ; Alzaidan, Hamad ; Alsayed, Moeen ; Subhani, Shazia ; Cupler, Edward ; Faden, Maha ; Alhashem, Amal ; Qari, Alya ; Chedrawi, Aziza ; Aldhalaan, Hisham ; Kurdi, Wesam ; Khan, Sameena ; Rahbeeni, Zuhair ; Alotaibi, Maha ; Goljan, Ewa ; Elbardisy, Hadeel ; Elkalioby, Mohamed ; Shah, Zeeshan ; Alruwaili, Hibah ; Jaafar, Amal ; Albar, Ranad ; Akilan, Asma ; Tayeb, Hamsa ; Tahir, Asma ; Fawzy, Mohammed ; Nasr, Mohammed ; Makki, Shaza ; Alfaifi, Abdullah ; Akleh, Hanna ; Yamani, Suad ; Bubshait, Dalal ; Mahnashi, Mohammed ; Basha, Talal ; Alsagheir, Afaf ; Abu Khaled, Musad ; Alsaleem, Khalid ; Almugbel, Maisoon ; Badawi, Manal ; Bashiri, Fahad ; Bohlega, Saeed ; Sulaiman, Raashida ; Tous, Ehab ; Ahmed, Syed ; Algoufi, Talal ; Al-Mousa, Hamoud ; Alaki, Emadia ; Alhumaidi, Susan ; Althagafi, Malak ; Alghamdi, Hadeel ; Alghamdi, Malak ; Sahly, Ahmed ; Nahrir, Shapar ; Al-Ahmari, Ali ; Alkuraya, Hisham ; Almehaidib, Ali ; Abanemai, Mohammed ; Alsohaibaini, Fahad ; Alsaud, Bandar ; Arnaout, Rand ; Abdel-Salam, Ghada M.H ; Aldhekri, Hasan ; Alkhater, Suzan ; Alqadi, Khalid ; Alsabban, Essam ; Alshareef, Turki ; Awartani, Khalid ; Banjar, Hanaa ; Alsahan, Nada ; Abosoudah, Ibraheem ; Alashwal, Abdullah ; Aldekhail, Wajeeh ; Alhajjar, Sami ; Al-Mayouf, Sulaiman ; Alsemari, Abdulaziz ; Alshuaibi, Walaa ; Altala, Saeed ; Altalhi, Abdulhadi ; Baz, Salah ; Hamad, Muddathir ; Abalkhail, Tariq ; Alenazi, Badi ; Alkaff, Alya ; Almohareb, Fahad ; Al Mutairi, Fuad ; Alsaleh, Mona ; Alsonbul, Abdullah ; Alzelaye, Somaya ; Bahzad, Shakir ; Manee, Abdulaziz Bin ; Jarrad, Ola ; Meriki, Neama ; Albeirouti, Bassem ; Alqasmi, Amal ; Albalwi, Mohammed ; Makhseed, Nawal ; Hassan, Saeed ; Salih, Isam ; Salih, Mustafa A ; Shaheen, Marwan ; Sermin, Saadeh ; Shahrukh, Shamsad ; Hashmi, Shahrukh ; Shawli, Ayman ; Tajuddin, Ameen ; Tamim, Abdullah ; Alnahari, Ahmed ; Ghemlas, Ibrahim ; Hussein, Maged ; Wali, Sami ; Murad, Hatem ; Meyer, Brian F ; Alkuraya, Fowzan S

The American Journal of Human Genetics, 06 June 2019, Vol.104(6), pp.1182-1201 [Periódico revisado por pares]

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Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease

Eman Al Yemni ; Dorota Monies ; Thamer Alkhairallah ; Saeed Bohlega ; Mohamed Abouelhoda ; Amna Magrashi ; Abeer Mustafa ; Basma Alabdulaziz ; Mohamed Alhamed ; Batoul Baz ; Ewa Goljan ; Renad Albar ; Amjad Jabaan ; Tariq Faquih ; Shazia Subhani ; Wafa Ali ; Jameela Shinwari ; Bashayer Al-Mubarak ; Nada Al-Tassan

Scientific Reports, 01 March 2019, Vol.9(1), pp.1-9 [Periódico revisado por pares]

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Deste Autor:

  1. Monies, Dorota
  2. Meyer, Brian F.
  3. Bohlega, Saeed
  4. Goljan, Ewa
  5. Subhani, Shazia

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