תוצאות חיפוש - 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 מאת V J Rodrigues, Solaf M. Elsayed, Bart Loeys, Hal Dietz, David M. Yousem

    יצא לאור 2009
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    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 מאת Tawhida Y. Abdel Ghaffar, Solaf M. Elsayed, Suzan El‐Naghy, Ahmed Shadeed, Ezzat Elsobky, H Schmidt

    יצא לאור 2011
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    Artigo
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  3. 3
    Consanguinity and its relevance to clinical genetics

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

    יצא לאור 2013
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    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 מאת Chiara Redaelli, Rosalind Coleman, Laura Moro, Catherine Dacou‐Voutetakis, Solaf M. Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo, Daniela Tavian

    יצא לאור 2010
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    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 מאת 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

    יצא לאור 2011
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    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 מאת 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

    יצא לאור 2013
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    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 מאת 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

    יצא לאור 2015
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    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... מאת 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

    יצא לאור 2017
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    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 מאת 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

    יצא לאור 2016
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    Artigo
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