Výsledky vyhledávání - Mirna Assoum

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  1. 1
    Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

    Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia Autor Mirna Assoum, Mustafa A. Salih, Nathalie Drouot, Dorra H’mida-Ben Brahim, Clotilde Lagier‐Tourenne, Abdulmajeed AlDrees, Salah A. Elmalik, Taha S. Ahmed, Mohammad Z Seidahmed, Mohammad M. Kabiraj, M. Kœnig

    Vydáno 2010
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  2. 2
    A genomics approach to male infertility

    A genomics approach to male infertility Autor 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

    Vydáno 2020
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  3. 3
    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing Autor Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thévenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean‐Marçais, Martin Chevarin, Thibaud Jouan, Charlotte Pöe, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau‐Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet

    Vydáno 2019
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  4. 4
    Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

    Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism Autor Torunn Fiskerstrand, Dorra H’mida-Ben Brahim, Stefan Johansson, M’zahem Abderrahim, Bjørn Ivar Haukanes, Nathalie Drouot, Julian Zimmermann, Andrew J. Cole, Christian A. Vedeler, Cecilie Bredrup, Mirna Assoum, Mériem Tazir, Thomas Klockgether, Abdelmadjid Hamri, Vidar M. Steen, Helge Boman, Laurence A. Bindoff, M. Kœnig, Per M. Knappskog

    Vydáno 2010
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  5. 5
    <i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

    <i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease Autor Julia Vodopiutz, Rainer Seidl, Daniela Prayer, Muhammad Imran Khan, Johannes A. Mayr, Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M.S. Mancini, Carolin E. Sadowski, Nicolas Lévy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm Hildebrandt, Valérie Delague, Andreas Janecke, Martin Zenker

    Vydáno 2015
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  6. 6
    ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

    ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency Autor Clotilde Lagier‐Tourenne, Mériem Tazir, Luís C. López, Catarina M. Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, S. Makri, Lamia Alipacha, Traki Benhassine, Mathieu Anheim, David R. Lynch, Christelle Thibault-Carpentier, Frédéric Plewniak, Laurent Bianchetti, Christine Tranchant, Olivier Poch, Salvatore DiMauro, Jean‐Louis Mandel, Mário H. Barros, Michio Hirano, Michel Kœnig

    Vydáno 2008
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  7. 7
    <i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

    <i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia Autor Rebekah Jobling, Mirna Assoum, Oleksandr Gakh, Susan Blasér, Julian Raiman, Cyril Mignot, Emmanuel Roze, Alexandra Dürr, Alexis Brice, Nicolas Lévy, Chitra Prasad, Tara Paton, Andrew D. Paterson, Nicole M. Roslin, Christian R. Marshall, Jean-Pierre Desvignes, Nathalie Roëckel-Trevisiol, Stephen W. Scherer, Guy A. Rouleau, André Mégarbané, Grazia Isaya, Valérie Delague, Grace Yoon

    Vydáno 2015
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  8. 8
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Autor Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    Vydáno 2016
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  9. 9
    Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

    Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia Autor Sascha Vermeer, Alexander Hoischen, Rowdy Meijer, Christian Gilissen, Kornelia Neveling, Nienke Wieskamp, Arjan de Brouwer, Michel Kœnig, Mathieu Anheim, Mirna Assoum, Nathalie Drouot, S. Todorović, Vedrana Milić-Rašić, Hanns Lochmüller, Giovanni Stévanin, Cyril Goizet, Albert David, Alexandra Dürr, Alexis Brice, Berry Kremer, Bart P.C. van de Warrenburg, Mascha M.V.A.P. Schijvenaars, Angelien Heister, Michael Kwint, Peer Arts, Jenny van der Wijst, Joris A. Veltman, Erik‐Jan Kamsteeg, Hans Scheffer, Nine V.A.M. Knoers

    Vydáno 2010
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  10. 10
    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 Autor 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

    Vydáno 2019
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  11. 11
    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 Autor 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

    Vydáno 2019
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