תוצאות חיפוש - Saeed Bohlega

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  1. 1
    Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation

    Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation מאת Mohammed Alqwaifly, Saeed Bohlega

    יצא לאור 2016
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    Artigo
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  2. 2
    Riboflavin Has Neuroprotective Potential: Focus on Parkinson’s Disease and Migraine

    Riboflavin Has Neuroprotective Potential: Focus on Parkinson’s Disease and Migraine מאת Eyad T. Marashly, Saeed Bohlega

    יצא לאור 2017
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    Revisão
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  3. 3
    Tremor in Parkinson’s Disease: From Pathophysiology to Advanced Therapies

    Tremor in Parkinson’s Disease: From Pathophysiology to Advanced Therapies מאת Ali Abusrair, Walaa Elsekaily, Saeed Bohlega

    יצא לאור 2022
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    Revisão
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  4. 4
    A mutation in sigma‐1 receptor causes juvenile amyotrophic lateral sclerosis

    A mutation in sigma‐1 receptor causes juvenile amyotrophic lateral sclerosis מאת Amr Al‐Saif, Futwan Al‐Mohanna, Saeed Bohlega

    יצא לאור 2011
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    Artigo
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  5. 5
    Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3

    Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3 מאת Marios Kambouris, Saeed Bohlega, Abdulrahman AlTahan, Brian F. Meyer

    יצא לאור 2000
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    Artigo
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  6. 6
    Multiple sclerosis in the Arabian Gulf countries: a consensus statement

    Multiple sclerosis in the Arabian Gulf countries: a consensus statement מאת Saeed Bohlega, Jihad Inshasi, Abdel Rahman Al Tahan, Abu Bakr Madani, Hussien Qahtani, Peter Rieckmann

    יצא לאור 2013
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    Revisão
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  7. 7
    A missense mutation in <i>PIK3R5</i> gene in a family with ataxia and oculomotor apraxia

    A missense mutation in <i>PIK3R5</i> gene in a family with ataxia and oculomotor apraxia מאת Nada Al Tassan, Dania S. Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed, Samaher AlAhmed, Saeed Bohlega

    יצא לאור 2011
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    Artigo
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  8. 8
    Diagnosis and management of Neuro-Behçet’s disease: international consensus recommendations

    Diagnosis and management of Neuro-Behçet’s disease: international consensus recommendations מאת Seema Kalra, Alan J. Silman, Gülşen Akman‐Demir, Saeed Bohlega, Afshin Borhani‐Haghighi, Cris S. Constantinescu, H. Houman, Alfred Mahr, Carlo Salvarani, Petros P. Sfikakis, Aksel Sıva, Adnan Al-Araji

    יצא לאור 2013
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    Revisão
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  9. 9
    Pregnancy and the Use of Disease-Modifying Therapies in Patients with Multiple Sclerosis: Benefits versus Risks

    Pregnancy and the Use of Disease-Modifying Therapies in Patients with Multiple Sclerosis: Benefits versus Risks מאת Raed Alroughani, Ayşe Altıntaş, Mohammed Al Jumah, Mohammad Ali Sahraian, I. Alsharoqi, Abdurahman AlTahan, Abdulkader Daif, Maurice Dahdaleh, Dirk Deleu, Óscar Fernández, Nikolaos Grigoriadis, Jihad Inshasi, Rana Karabudak, Karim Taha, N. А. Totolyan, Bassem Yamout, Magd Zakaria, Saeed Bohlega

    יצא לאור 2016
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    Revisão
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  10. 10
    The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins

    The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins מאת Alice Dreser, Jan Tilmann Vollrath, Antonio Sechi, Sonja Johann, Andreas Roos, Alfred Yamoah, István Katona, Saeed Bohlega, Dominik Wiemuth, Yuemin Tian, Axel Schmidt, Jörg Vervoorts, Marc Dohmen, Cordian Beyer, Jasper J. Anink, Eleonora Aronica, Dirk Troost, Joachim Weis, Anand Goswami

    יצא לאור 2017
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    Artigo
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  11. 11
    Erratum to: Strategies for treatment of dystonia

    Erratum to: Strategies for treatment of dystonia מאת Dirk Dressler, Eckart Altenmueller, Roongroj Bhidayasiri, Saeed Bohlega, Pedro Chaná, Tae Mo Chung, Steven J. Frucht, Pedro Ruiz, Alain Kaelin‐Lang, Ryuji Kaji, Petr Kaňovský, Rainer Laskawi, Federico Micheli, Olga Orlova, Maja Relja, Raymond L. Rosales, Jarosław Sławek, Sofia Timerbaeva, Thomas T. Warner, Fereshte Adib Saberi

    יצא לאור 2015
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    Errata/Corrigenda
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  12. 12
    Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

    Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome מאת Anas M. Alazami, Amr Al‐Saif, Abdulaziz Alsemari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Çolak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P. Bhatia, Susanne A. Schneider, Nadia Sakati, Christopher A. Walsh, Futwan Al‐Mohanna, Brian F. Meyer, Fowzan S. Alkuraya

    יצא לאור 2008
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    Artigo
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  13. 13
    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 מאת 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

    יצא לאור 2019
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    Artigo
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  14. 14
    Consensus guidelines for botulinum toxin therapy: general algorithms and dosing tables for dystonia and spasticity

    Consensus guidelines for botulinum toxin therapy: general algorithms and dosing tables for dystonia and spasticity מאת Dirk Dressler, Maria Concetta Altavista, Eckart Altenmueller, Roongroj Bhidayasiri, Saeed Bohlega, Pedro Chaná, Tae Mo Chung, Carlo Colosimo, Klemens Fheodoroff, Pedro Ruiz, Beomseok Jeon, Lingjing Jin, Petr Kaňovský, Ivan Milanov, Federico Micheli, Olga Orlova, Sanjay Pandey, Zvezdan Pirtošek, Maja Relja, Raymond L. Rosales, José Alberto Sagástegui-Rodríguez, Gholam Ali Shahidi, Sofia Timerbaeva, Xinhua Wan, Uwe Walter, Fereshte Adib Saberi

    יצא לאור 2021
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    Artigo
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  15. 15
    Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

    Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis מאת Carol Dobson‐Stone, Adrian Danek, Luca Rampoldi, R Hardie, RM Chalmers, Nicholas Wood, Saeed Bohlega, Mt Dotti, Antonio Federico, Masami Shizuka, Masami Tanaka, Masao Watanabe, Yoshio Ikeda, Mitchell F. Brin, LG Goldfarb, BI Karp, Saidi Mohiddin, Lameh Fananapazir, Alexander Storch, A E Fryer, Paul Maddison, Igor Sibon, PC Trevisol-Bittencourt, Carlos Singer, IR Caballero, JO Aasly, K Schmierer, Reinhard Dengler, L-P Hiersemenzel, Massimo Zeviani, Vardiella Meiner, Alexander Lossos, S. E. N. Johnson, FC Mercado, Giuseppe Sorrentino, Nicolas Dupré, GA Rouleau, Jens Volkmann, Javier Arpa, Andrew Lees, G Géraud, Sylvain Chouinard, Andrea H. Németh, Anthony P. Monaco

    יצא לאור 2002
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    Artigo
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  16. 16
    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 מאת 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

    יצא לאור 2014
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    Artigo
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  17. 17
    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 מאת 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

    יצא לאור 2023
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    Artigo
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  18. 18
    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 מאת 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

    יצא לאור 2017
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    Artigo
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  19. 19
    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 מאת 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

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
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  20. 20
    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 מאת 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

    יצא לאור 2019
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    Errata/Corrigenda
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