Ngā hua rapu - Solaf M. Elsayed

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  1. 1
    Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1

    Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1 mā V J Rodrigues, Solaf M. Elsayed, Bart Loeys, Hal Dietz, David M. Yousem

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients

    Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients mā Tawhida Y. Abdel Ghaffar, Solaf M. Elsayed, Suzan El‐Naghy, Ahmed Shadeed, Ezzat Elsobky, H Schmidt

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Consanguinity and its relevance to clinical genetics

    Consanguinity and its relevance to clinical genetics mā Rabah M. Shawky, Solaf M. Elsayed, Moushira Zaki, Sahar M. Nour El-Din, Ferihan M. Kamal

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

    Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene mā Chiara Redaelli, Rosalind Coleman, Laura Moro, Catherine Dacou‐Voutetakis, Solaf M. Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo, Daniela Tavian

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

    Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics mā Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed, Yorck Hellenbroich, Eugen Boltshauser, Georg Christoph Korenke, Francesca Fabretti, Andreas Janecke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg, Hanswalter Zentgraf, Friederike Koerber, Klaus Addicks, Ezzat Elsobky, Thomas Benzing, Bernhard Schermer, Hanno J. Bolz

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

    WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta mā Shawna M. Pyott, Thao Tran, Dru F. Leistritz, Melanie Pepin, Nancy J. Mendelsohn, Renee Temme, Bridget A. Fernandez, Solaf M. Elsayed, Ezzat Elsobky, I. C. Verma, Sreelata Nair, Emily H. Turner, Joshua D. Smith, Gail P. Jarvik, Peter H. Byers

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

    The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care mā Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote, Solaf M. Elsayed, Louise Gibson, Judith A. Goodship, Andrew P. Jackson, Wee ik Te Keng, Mary D. King, Emma McCann, Toshino Motojima, J. Elliot Murray, Taku Omata, Daniela T. Pilz, Kate Pope, Katsuo Sugita, Susan M. White, Ian Wilson

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and<i>PEX26</i>mutated in Heimler syndrome

    Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read... mā Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo B. Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid Mahmood Baig, Heidi Stöhr, Markus N. Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel‐Wolfrum, Arif O. Khan, Hanno J. Bolz

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

    Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis mā Aimée L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sánchez‐Pulido, Stephen R.F. Twigg, Anne Goriely, Simon J. McGowan, Kerry A. Miller, Indira B. Taylor, Clare V. Logan, Sevcan Tuğ Bozdoğan, Sumita Danda, Joanne Dixon, Solaf M. Elsayed, Ezzat Elsobky, Alice Gardham, Mariëtte J.V. Hoffer, Marion Koopmans, Donna M. McDonald‐McGinn, Gijs W.E. Santen, Ravi Savarirayan, Deepthi De Silva, Olivier Vanakker, Steven A. Wall, Louise C. Wilson, Özge Özalp Yüreğir, Elaine H. Zackai, Chris P. Ponting, Andrew P. Jackson, Andrew O.M. Wilkie, Wojciech Niedźwiedź, Louise S. Bicknell

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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