Search Results - Rowida Almomani
- Showing 1 - 9 results of 9
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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> by Khaldon Bodoor, Firas Al‐Qarqaz, Leen Al Heis, Mahmoud A. Alfaqih, Ashraf O. Oweis, Rowida Almomani, M. Obeidat
Published 2020Artigo -
2
A gain-of-function sodium channel<b>β</b>2-subunit mutation in painful diabetic neuropathy by 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
Published 2019Artigo -
3
Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene by 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
Published 2010Artigo -
4
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy by 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
Published 2018Artigo -
5
Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics by 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
Published 2013Artigo -
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... by 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
Published 2013Artigo -
7
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy by 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
Published 2014Artigo -
8
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 by 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
Published 2012Artigo -
9
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy by 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
Published 2016Artigo
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