Ngā hua rapu - Mustafa A. Salih

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  1. 1
    Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder

    Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder mā Marie Fernet, Moez Gribaa, Mustafa A. Salih, Mohamed Zein Seidahmed, Janet Hall, M. Kœnig

    I whakaputaina 2004
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance

    Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance mā Y. Adachi, Annapurna Poduri, A. Kawaguch, Gihyun Yoon, Mustafa A. Salih, Fumiya Yamashita, Christopher A. Walsh, A. James Barkovich

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Clinical characterization of the HOXA1 syndrome BSAS variant

    Clinical characterization of the HOXA1 syndrome BSAS variant mā Thomas M. Bosley, Mustafa A. Salih, Ibrahim A. Alorainy, Darren T. Oystreck, Michael Nester, Khaled K. Abu‐Amero, Max A. Tischfield, Elizabeth C. Engle

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    The clinical spectrum of homozygous <i>HOXA1</i> mutations

    The clinical spectrum of homozygous <i>HOXA1</i> mutations mā Thomas M. Bosley, Ibrahim A. Alorainy, Mustafa A. Salih, Hesham Aldhalaan, Khaled K. Abu‐Amero, Darren T. Oystreck, Max A. Tischfield, Elizabeth C. Engle, Robert P. Erickson

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Epidemiology of neural tube defects

    Epidemiology of neural tube defects mā Mohammed Z. Seidahmed, Omer Bashir Abdelbasit, Meeralebbae M. Shaheed, Khalid Al-Hussein, Abeer M. Miqdad, M. I. Khalil, Naif M. Al-Enazy, Med Sci Mustafa A. Salih

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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  6. 6
    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 mā 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

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin 2-Chain

    Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin 2-Chain mā Valérie Allamand, Yoshihide Sunada, Mustafa A. Salih, Volker Straub, O. Ozo, Muath Al-Turaiki, Muhammad Akbar, T. Kolo, Holly Colognato, X Zhang, Lydia Sorokin, Peter D. Yurchenco, Karl Tryggvason, Kevin P. Campbell

    I whakaputaina 1997
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

    POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations mā Stefania Di Costanzo, Anuradha Balasubramanian, Heather L. Pond, Anete Rozkalne, Chiara Pantaleoni, S. Saredi, Vandana Gupta, Christine Sunu, Timothy W. Yu, Peter B. Kang, Mustafa A. Salih, Marina Mora, Emanuela Gussoni, Christopher A. Walsh, M. Chiara Manzini

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

    Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? mā Ryuki Hirano, Heidrun Interthal, Cheng Huang, Tomonori Nakamura, Kimiko Deguchi, Kunho Choi, Meenakshi B. Bhattacharjee, Kimiyoshi Arimura, Fujio Umehara, Shuji Izumo, Jennifer L. Northrop, Mustafa A. Salih, Ken Inoue, Dawna L. Armstrong, James J. Champoux, Hiroshi Takashima, Cornelius F. Boerkoel

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

    Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy mā Lucie Gueneau, A. Bertrand, Jean‐Philippe Jaïs, Mustafa A. Salih, Tanya Stojkovic, Manfred Wehnert, Maria Hoeltzenbein, Simone Spuler, Shinji Saitoh, Annie Verschueren, Christine Tranchant, Maud Beuvin, Emmanuelle Lacène, Norma B. Romero, Simon Heath, Diana Zélénika, Thomas Voït, B. Eymard, Rabah Ben Yaou, Gisèle Bonne

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

    Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome mā Jeroen van Reeuwijk, Prabhjit K. Grewal, Mustafa A. Salih, Daniel Beltrán-Valero de Bernabé, Jenny M. McLaughlan, Caroline B. Michielse, Ralf Herrmann, Jane Hewitt, Alice Steinbrecher, Mohamed Z. Seidahmed, Mohamed M. Shaheed, Abdullah M. Abomelha, Han G. Brunner, Hans van Bokhoven, Thomas Voït

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy

    Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy mā Annapurna Poduri, Sameer S. Chopra, Edward Neilan, Princess C. Elhosary, Manju A. Kurian, Esther Meyer, Brenda J. Barry, Omar Khwaja, Mustafa A. Salih, Tommy Stödberg, Ingrid E. Scheffer, Eamonn R. Maher, Mustafa Şahin, Bai‐Lin Wu, Gerard T. Berry, Christopher A. Walsh, Jonathan Picker, Sanjeev V. Kothare

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East

    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East mā M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, Robert Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin‐Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel‐Vanagaite, Mohamed Z. Seidahmed, Mustafa A. Salih, William B. Dobyns, Christopher A. Walsh

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Congenital myasthenic syndromes due to mutations in<i>ALG2</i>and<i>ALG14</i>

    Congenital myasthenic syndromes due to mutations in<i>ALG2</i>and<i>ALG14</i> mā Judith Cossins, Katsiaryna Belaya, Debbie Hicks, Mustafa A. Salih, Sarah Finlayson, Nicola Carboni, Weiwei Liu, Susan Maxwell, Katarzyna Marta Zoltowska, Golara Torabi Farsani, Steven H. Laval, M.Z. Seidhamed, Peter Donnelly, David Bentley, Simon J. McGowan, Juliane Müller, Jacqueline Palace, Hanns Lochmüller, David Beeson

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation mā Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee, Cari A. Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, M. Renaud, Fabrice Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean‐Louis Mandel, Mark T. Bedford, Peter Bauer, Mustafa A. Salih, Rebecca Schüle, Lüdger Schöls, C. Marcelo Aldaz, Michel Kœnig

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

    The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States mā Hemakumar M. Reddy, Kyung‐Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

    New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations mā Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al‐Owain, Hisham Alkhalidi, István Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, M. Kœnig, Giovanni Stévanin, Hamid Azzedine

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

    Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes mā Violeta Mihaylova, Juliane S. Müller, Juan J. Vílchez, Mustafa A. Salih, Mohammad M. Kabiraj, Adele D’Amico, Enrico Bertini, Joachim Wölfle, Felix Schreiner, Gerhard Kurlemann, Vedrana Milić Rašić, Dana Šišková, J. Colomer, Ágnes Herczegfalvi, Katarina Fabriciova, Bernhard Weschke, Rosana Hermínia Scola, Friederike Hoellen, Ulrike Schara, Angela Abicht, Hanns Lochmüller

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

    Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort mā Gabrielle L. Davidson, Sinéad M. Murphy, James M. Polke, Matilde Laurá, Mustafa A. Salih, Francesco Muntoni, J. Blake, Sebastian Brandner, Nicholas Davies, Rita Horváth, Simon Price, Michael Donaghy, Michael W. Roberts, Nicola Foulds, Gita Ramdharry, Doriette Soler, Michael P. Lunn, Hadi Manji, Mary B. Davis, Henry Houlden, Mary M. Reilly

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

    CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis mā M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra B. Laurent, Zohair Nanjiani, Saima Rasheed, Robert Hill, Sofia B. Lizarraga, Danielle Gleason, M. Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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