检索结果 - Majed Dasouki

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  1. 1
    Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

    Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services 由 Jennifer Roberts, Karine Hovanes, Majed Dasouki, Ann M. Manzardo, Merlin G. Butler

    出版 2013
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  2. 2
    Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

    Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome 由 A. S. Najim Al-Din, A. Wriekat, Amar Mubaidin, Majed Dasouki, Mohammad Ali Hiari

    出版 2009
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  3. 3
    Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening

    Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newb... 由 Majed Dasouki, Kingsley C. Okonkwo, Abhishek Ray, Caspian K. Folmsbeel, Diana Gozales, Sevgi Keleş, Jennifer M. Puck, Talal A. Chatila

    出版 2011
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  4. 4
    Metabolomics Based Profiling of Dexamethasone Side Effects in Rats

    Metabolomics Based Profiling of Dexamethasone Side Effects in Rats 由 Abeer Malkawi, Karem H. Alzoubi, Minnie Jacob, Goran Matic, Asmaa Ali, Achraf Al Faraj, Falah Almuhanna, Majed Dasouki, Anas M. Abdel Rahman

    出版 2018
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  5. 5
    Pompe Disease

    Pompe Disease 由 Majed Dasouki, Omar Jawdat, Osama Almadhoun, Mamatha Pasnoor, April McVey, Ahmad R. Abuzinadah, Laura Herbelin, Richard J. Barohn, Mazen M. Dimachkie

    出版 2014
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  6. 6
    High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots

    High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried... 由 Hamoud Al‐Mousa, Ghadah Aldakheel, Amal Jabr, Fahd El‐Badaoui, Mohamed Abouelhoda, Mansoor Ali Baig, Dorota Monies, Brian F. Meyer, Abbas Hawwari, Majed Dasouki

    出版 2018
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  7. 7
    Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

    Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia 由 Majed Dasouki, Syed K. Rafi, Adam J. Olm-Shipman, Nathan R. Wilson, Sunil Abhyankar, Brigitte Ganter, L. Mike Furness, Jianwen Fang, Rodrigo T. Calado, Irfan Saadi

    出版 2013
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  8. 8
    Functional Analysis of NBC1 Mutants Associated with Proximal Renal Tubular Acidosis and Ocular Abnormalities

    Functional Analysis of NBC1 Mutants Associated with Proximal Renal Tubular Acidosis and Ocular Abnormalities 由 Shoko Horita, Hideomi Yamada, Jun Inatomi, Nobuo Moriyama, Takashi Sekine, Takashi Igarashi, Yoko Endo, Majed Dasouki, Mesı̇ha Ekı̇m, Lihadh Al‐Gazali, Mitsunobu Shimadzu, George Seki, Toshiro Fujita

    出版 2005
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  9. 9
    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease 由 Laura E. Case, Carl Bjartmar, Claire Morgan, Robin Casey, Joel Charrow, John Clancy, Majed Dasouki, Stephanie DeArmey, Khan Nedd, Mary Nevins, Heidi Peters, Dawn Phillips, Zachary Spigelman, Cynthia J. Tifft, Priya S. Kishnani

    出版 2014
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  10. 10
    Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells

    Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells 由 Erin Janssen, Henner Morbach, Sumana Ullas, Jason M. Bannock, Christopher Massad, Laurence Ménard, Işıl Barlan, Marie‐Paule Lefranc, Helen C. Su, Majed Dasouki, Waleed Al-Herz, Sevgi Keleş, Talal A. Chatila, Raif S. Geha, Eric Meffre

    出版 2014
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  11. 11
    Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway

    Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pat... 由 Xiao-Ping Zhou, Kristin Waite, Robert Pilarski, Heather Hampel, Magali Fernandez, Cindy Bos, Majed Dasouki, Gerald L. Feldman, Lois A. Greenberg, Jennifer Ivanovich, Ellen Matloff, Annette R. Patterson, Mary Ella Pierpont, Donna Russo, Najah T. Nassif, Charis Eng

    出版 2003
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  12. 12
    Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

    Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency 由 Morten J. Corydon, Jerry Vockley, Piero Rinaldo, William J. Rhead, Margrethe Kjeldsen, Vibeke Winter, Charles E. Riggs, Dusica Babovic‐Vuksanovic, Jan Smeitink, Jan de Jong, Harvey L. Levy, A Sewell, Charles R. Roe, Dietrich Matern, Majed Dasouki, Niels Gregersen

    出版 2001
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  13. 13
    Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

    Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency 由 Marjolijn Renard, Tammy M. Holm, Regan Veith, Bert Callewaert, Lesley C. Adès, Osman Başpınar, Angela Pickart, Majed Dasouki, Juliane Hoyer, Anita Rauch, Pamela Trapane, Michael G. Earing, Paul Coucke, Lynn Y. Sakai, Harry C. Dietz, Anne M. De Paepe, Bart Loeys

    出版 2010
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  14. 14
    A genomics approach to male infertility

    A genomics approach to male infertility 由 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

    出版 2020
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  15. 15
    Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

    Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1 由 Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia, Dominick Amato, Hagit Baris, Majed Dasouki, Marwan Ghosn, Atul Mehta, Seymour Packman, Gregory M. Pastores, Мilan Petakov, Sarit Assouline, Manisha Balwani, Sumita Danda, Evgueniy Hadjiev, Andres Ortega, Suma P. Shankar, María Helena Solano, Leorah Ross, Jennifer Angell, Michel Peterschmitt

    出版 2015
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  16. 16
    Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy

    Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy 由 Vinod Malik, Louise R. Rodino‐Klapac, Laurence Viollet, Cheryl Wall, Wendy King, Roula Al‐Dahhak, Sarah Lewis, Christopher Shilling, Janaiah Kota, Carmen Serrano, John R. Hayes, John D. Mahan, Katherine J. Campbell, Brenda Banwell, Majed Dasouki, Victoria Watts, Kumaraswamy Sivakumar, Ricardo Bien‐Willner, Kevin M. Flanigan, Zarife Sahenk, Richard J. Barohn, Christopher M. Walker, Jerry R. Mendell

    出版 2010
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  17. 17
    DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

    DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation 由 Haifa H. Jabara, Douglas R. McDonald, Erin Janssen, Michel J. Massaad, Narayanaswamy Ramesh, Arturo Borzutzky, Ingrid Rauter, Halli Benson, Lynda C. Schneider, Sachin N. Baxi, Mike Recher, Luigi D. Notarangelo, Rima Hanna Wakim, Ghassan Dbaibo, Majed Dasouki, Waleed Al‐Herz, Işıl Barlan, Safa Barış, Necil Kütükçüler, Hans D. Ochs, Alessandro Plebani, Maria Kanariou, Marie‐Paule Lefranc, İsmail Reisli, Katherine A. Fitzgerald, Douglas T. Golenbock, John P. Manis, Sevgi Keleş, Reuben Ceja, Talal A. Chatila, Raif S. Geha

    出版 2012
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  18. 18
    Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

    Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat 由 Dominique P. Germain, Derralynn Hughes, Kathy Nicholls, Daniel G. Bichet, Roberto Giugliani, William R. Wilcox, Claudio Feliciani, Suma P. Shankar, Fatih Süheyl Ezgü, Hernan Amartino, Drago Bratkovic, Ulla Feldt‐Rasmussen, Khan Nedd, Usama Sharaf El Din, Charles Marques Lourenço, Maryam Banikazemi, Joel Charrow, Majed Dasouki, David N. Finegold, Pilar Giraldo, Özlem Göker-Alpan, Nicola Longo, C. Ronald Scott, Roser Torrá, Ahmad Tuffaha, Ana Jovanović, Stephen Waldek, Seymour Packman, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Elfrida R. Benjamin, Franklin K. Johnson, David J. Lockhart, Nina Skuban, Jeff Castelli, Jay Barth, Carrolee Barlow, Raphael Schiffmann

    出版 2016
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  19. 19
    Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

    Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis 由 Ricardo Moreno Traspas, Tze Shin Teoh, Pui‐Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Al‐Sannaa, Eissa Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Ping Ping Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hülya Kayserili, Kimberly A. Kripps, Shareef Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Lazari Sandoval, Elisa de Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr Alsaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez‐Herrera, Suliman Khan, Peter Bauer, Benjamin Cogné, Aida M. Bertoli‐Avella, Marie Vincent, Katta M. Girisha, Bruno Reversade

    出版 2022
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  20. 20
    The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

    The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency 由 Karin R. Engelhardt, Michael E. Gertz, Sevgi Keleş, Alejandro A. Schäffer, Elena C. Sigmund, Cristina Glocker, Shiva Saghafi, Zahra Pourpak, R Ceja, Atfa Sassi, L Graham, Michel J. Massaad, Fethi Mellouli, Imen Ben‐Mustapha, Monia Khémiri, Sara Şebnem Kılıç, Amos Etzioni, Alexandra F. Freeman, Jens Thiel, Ilka Schulze, Waleed Al‐Herz, Ayşe Metìn, Özden Sanal, İlhan Tezcan, Mehdi Yeganeh, Tim Niehues, Gregor Dueckers, Sebastian Weinspach, Türkan Patıroğlu, Ekrem Ünal, Majed Dasouki, M. Yılmaz, Ferah Genel, Caner Aytekin, Necil Kütükçüler, Ayper Somer, Mehmet Kılıç, İsmail Reisli, Yıldız Çamcıoğlu, Andrew R. Gennery, Andrew J. Cant, Alison Jones, Bobby Gaspar, Peter D. Arkwright, Maria Cristina Pietrogrande, Zeina Baz, Salem Al‐Tamemi, Vassilios Lougaris, Marie‐Paule Lefranc, André Mégarbané, Jeannette Boutros, Nermeen Galal, Mohamed Béjaoui, Mohamed‐Ridha Barbouche, Raif S. Geha, Talal A. Chatila, Bodo Grimbacher

    出版 2015
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