Search Results - Anna Rajab

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  1. 1
    Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

    Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome by Hanan E. Shamseldin, Anna Rajab, Amal Alhashem, Ranad Shaheen, Tarfa Alshidi, Rana Alamro, Salma Al Harassi, Fowzan S. Alkuraya

    Published 2013
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  2. 2
    Loss of chondroitin 6-<i>O</i>-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

    Loss of chondroitin 6-<i>O</i>-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement by Hölger Thiele, Masahiro Sakano, Hiroshi Kitagawa, Kazuyuki Sugahara, Anna Rajab, Wolfgang Höhne, Heide Ritter, Gundula Leschik, Peter Nürnberg, Stefan Mundlos

    Published 2004
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  3. 3
    Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans

    Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans by Jamie L. Courtland, Tyler WA Bradshaw, Greg Waitt, Erik J. Soderblom, Tricia Ho, Anna Rajab, Ricardo Vancini, Il Hwan Kim, Scott H. Soderling

    Published 2021
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  4. 4
    Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

    Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations by Anna Rajab, Volker Straub, Liza McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke

    Published 2010
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  5. 5
    Novel loss‐of‐function variants in <i>DIAPH1</i> associated with syndromic microcephaly, blindness, and early onset seizures

    Novel loss‐of‐function variants in <i>DIAPH1</i> associated with syndromic microcephaly, blindness, and early onset seizures by Almundher Al‐Maawali, Brenda J. Barry, Anna Rajab, Malak El‐Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwaran H. Mochida, Joan M. Stoler

    Published 2015
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  6. 6
    Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

    Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome by Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyńa Chrzańowska, Małgorzata Krajewska‐Walasek, Anna Rajab, Roberto Giugliani, Thomas Neumann, Katja‐Martina Eckl, Mohsen Karbasiyan, André Reis, Denise Horn

    Published 2004
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  7. 7
    Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

    Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit by Katrin Hoffmann, Juliane Müller, Sigmar Stricker, André Mégarbané, Anna Rajab, Tom H. Lindner, Monika Cohen, Éliane Chouery, Lynn Adaimy, Ismat Ghanem, Valérie Delague, Eugen Boltshauser, Beril Talim, Rita Horváth, Peter N. Robinson, Hanns Lochmüller, Christoph Hübner, Stefan Mundlos

    Published 2006
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  8. 8
    Loss of PCLO function underlies pontocerebellar hypoplasia type III

    Loss of PCLO function underlies pontocerebellar hypoplasia type III by Momin Ahmed, Barry A. Chioza, Anna Rajab, Klaus Schmitz‐Abe, Aisha Al‐Khayat, Saeed Al-Turki, Emma L. Baple, Michael A. Patton, A. Al‐Memar, Matthew E. Hurles, Jennifer N. Partlow, Robert Hill, Gilad D. Evrony, Sarah Servattalab, Kyriacos Markianos, Christopher A. Walsh, Andrew H. Crosby, Ganeshwaran H. Mochida

    Published 2015
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  9. 9
    Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

    Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin by Hans Christian Hennies, Uwe Kornak, Haikuo Zhang, Johannes Egerer, Xin Zhang, Wenke Seifert, Jirko Kühnisch, Birgit Budde, Marc Nätebus, Francesco Brancati, William R. Wilcox, Dietmar Müller, Paige Kaplan, Anna Rajab, Giuseppe Zampino, Valentina Fodale, Bruno Dallapiccola, William G. Newman, Kay Metcalfe, Jill Clayton‐Smith, May Tassabehji, Beat Steinmann, Francis A. Barr, Peter Nürnberg, P. Wieacker, Stefan Mundlos

    Published 2008
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  10. 10
    Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

    Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination by Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen‐Hann Tan, Ramzi Nasir, Klaus Schmitz‐Abe, Robert Hill, Jennifer N. Partlow, Muna Al‐Saffar, Sarah Servattalab, Christopher M. LaCoursiere, Dimira Tambunan, Michael E. Coulter, Princess C. Elhosary, Grzegorz Górski, A. James Barkovich, Kyriacos Markianos, Annapurna Poduri, Ganeshwaran H. Mochida

    Published 2015
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  11. 11
    Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

    Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus by Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihadh Al‐Gazali, Sophie Thomas, Erica E. Davis, Stephanie Bielas, Kiley J. Hill, Miriam Iannicelli, Francesco Brancati, Stacey Gabriel, Carsten Russ, Clare V. Logan, Saghira Malik Sharif, Christopher Bennett, Masumi Abe, Friedhelm Hildebrandt, Bill H. Diplas, Tania Attié‐Bitach, Nicholas Katsanis, Anna Rajab, Roshan Koul, László Sztriha, Elizabeth R. Waters, Susan Ferro‐Novick, C. Geoffrey Woods, Colin A. Johnson, Enza Maria Valente, Maha S. Zaki, Joseph G. Gleeson

    Published 2012
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  12. 12
    Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

    Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features by Qing Ouyang, Tojo Nakayama, Ozan Baytaş, Shawn M. Davidson, Chendong Yang, M Schmidt, Sofia B. Lizarraga, Sasmita Mishra, Malak EI-Quessny, Saima Niaz, Mirrat Gul Butt, Syed Imran Murtaza, Afzal Javed, Haroon Rashid Chaudhry, Dylan J. Vaughan, Robert Hill, Jennifer N. Partlow, Seung-Yun Yoo, Anh-Thu N. Lam, Ramzi Nasir, Muna Al‐Saffar, A. James Barkovich, Matthew Schwede, Shailender Nagpal, Anna Rajab, Ralph J. DeBerardinis, David E. Housman, Ganeshwaran H. Mochida, Eric M. Morrow

    Published 2016
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  13. 13
    A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

    A large-scale mutation search reveals genetic heterogeneity in 3M syndrome by Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, Clarisse Baumann, Valérie Malan, Martine Le Merrer, Daniela Bezerra Da Silva, Dominique Bonneau, Pierre Chatelain, Carol Chu, Robin D. Clark, Helen Cox, Patrick Edery, Thomas Édouard, Virginia Fano, Kate Gibson, Gabriele Gillessen‐Kaesbach, M. L. Giovannucci-Uzielli, Luitgard Graul‐Neumann, Johana-Maria van Hagen, Liselot van Hest, Dafne Dain Gandelman Horovitz, Judith Melki, Carl‐Joachim Partsch, H Plauchu, Anna Rajab, Massimiliano Rossi, David Sillence, Elisabeth Steichen‐Gersdorf, Helen Stewart, Sheila Unger, Martin Zenker, Arnold Münnich, Valérie Cormier‐Daire

    Published 2008
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  14. 14
    PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

    PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment by Massimo Zollo, Momin Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed H. Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al‐Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E. Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, K. Sunil, Maria Monti, Gaurav V. Harlalka, Michael A. Simpson, Philip Rich, Fatema Al-Salmi, Michael A. Patton, Barry A. Chioza, Stéphanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G. Hanna, Piero Pucci, Henry Houlden, James R. Lupski, Andrew H. Crosby, Emma L. Baple

    Published 2017
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