检索结果 - Rowida Almomani

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  1. 1
    <p>IL-33/13 Axis and IL-4/31 Axis Play Distinct Roles in Inflammatory Process and Itch in Psoriasis and Atopic Dermatitis</p>

    <p>IL-33/13 Axis and IL-4/31 Axis Play Distinct Roles in Inflammatory Process and Itch in Psoriasis and Atopic Dermatitis</p> 由 Khaldon Bodoor, Firas Al‐Qarqaz, Leen Al Heis, Mahmoud A. Alfaqih, Ashraf O. Oweis, Rowida Almomani, M. Obeidat

    出版 2020
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  2. 2
    A gain-of-function sodium channel<b>β</b>2-subunit mutation in painful diabetic neuropathy

    A gain-of-function sodium channel<b>β</b>2-subunit mutation in painful diabetic neuropathy 由 Matthew Alsaloum, Mark Estación, Rowida Almomani, Monique M. Gerrits, Gidon J. Bönhof, Dan Ziegler, Rayaz A. Malik, Maryam Ferdousi, Giuseppe Lauria, Ingemar S. J. Merkies, Catharina G. Faber, Sulayman D. Dib‐Hajj, Stephen G. Waxman

    出版 2019
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  3. 3
    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene 由 Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel‐Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyürek, Johan T. den Dunnen, Martijn H. Breuning

    出版 2010
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  4. 4
    Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

    Yield of peripheral sodium channels gene screening in pure small fibre neuropathy 由 Ivo Eijkenboom, Maurice Sopacua, Janneke G. J. Hoeijmakers, Bianca T. A. de Greef, Patrick Lindsey, Rowida Almomani, Margherita Marchi, Jo Vanoevelen, H. Smeets, Stephen G. Waxman, Giuseppe Lauria, Ingemar S.J. Merkies, Catharina G. Faber, Monique M. Gerrits

    出版 2018
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  5. 5
    Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

    Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics 由 Birgit Sikkema‐Raddatz, Lennart Johansson, Eddy N. de Boer, Rowida Almomani, Ludolf G. Boven, Maarten P. van den Berg, Karin Y. van Spaendonck‐Zwarts, J. Peter van Tintelen, Rolf H. Sijmons, Jan D.H. Jongbloed, Richard J. Sinke

    出版 2013
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  6. 6
    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... 由 Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit

    出版 2013
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  7. 7
    Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

    Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy 由 Karin Y. van Spaendonck‐Zwarts, Anna Pósafalvi, Maarten P. van den Berg, Denise Hilfiker‐Kleiner, Ilse A. E. Bollen, Karen Sliwa, Mariëlle Alders, Rowida Almomani, Irene M. van Langen, Peter van der Meer, Richard J. Sinke, Jolanda van der Velden, Dirk J. van Veldhuisen, J. Peter van Tintelen, Jan D.H. Jongbloed

    出版 2014
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  8. 8
    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 由 Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin‐Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke Aartsma‐Rus, Rune R. Frants, Marjolein Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Egbert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel

    出版 2012
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  9. 9
    Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

    Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy 由 Rowida Almomani, Judith M.A. Verhagen, Johanna C. Herkert, Erwin Brosens, Karin Y. van Spaendonck‐Zwarts, Angeliki Asimaki, Paul A. van der Zwaag, Ingrid M.E. Frohn-Mulder, Aida M. Bertoli‐Avella, Ludolf G. Boven, Marjon A. van Slegtenhorst, Jasper J. van der Smagt, Wilfred F. J. van IJcken, Bert Timmer, Margriet van Stuijvenberg, Robert M. Verdijk, Jeffrey E. Saffitz, Frederik A. du Plessis, Michelle Michels, Robert M.W. Hofstra, Richard J. Sinke, J. Peter van Tintelen, Marja W. Wessels, Jan D.H. Jongbloed, Ingrid M.B.H. van de Laar

    出版 2016
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