Søgeresultater - Reyniers, Edwin 

CNV-WebStore: Online CNV Analysis, Storage and Interpretation af Vandeweyer, Geert, Reyniers, Edwin, Wuyts, Wim, Rooms, Liesbeth, Kooy, R Frank

Få fuldtekst Få fuldtekst Få fuldtekst

The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome af Vandeweyer, Geert, Van der Aa, Nathalie, Reyniers, Edwin, Kooy, R. Frank

Få fuldtekst Få fuldtekst Få fuldtekst

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome af Jensen, Matthew, Kooy, R. Frank, Simon, Tony J., Reyniers, Edwin, Girirajan, Santhosh, Tassone, Flora

Få fuldtekst Få fuldtekst Få fuldtekst

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 af Reyniers, Edwin, Van Bogaert, Patrick, Peeters, Nils, Vits, Lieve, Pauly, Fernand, Fransen, Erik, Van Regemorter, Nicole, Kooy, R. Frank

Få fuldtekst Få fuldtekst

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example af Beysen, Diane, De Cordt, Chania, Dielman, Charlotte, Ogunjimi, Benson, Dandelooy, Julie, Reyniers, Edwin, Janssens, Katrien, Meuwissen, Marije M.E.

Få fuldtekst Få fuldtekst Få fuldtekst

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior af Lenski, Claus , Frank Kooy, R. , Reyniers, Edwin , Loessner, Daniela , Wanders, Ronald J. A. , Winnepenninckx, Birgitta , Hellebrand, Heide , Engert, Stefanie , Schwartz, Charles E. , Meindl, Alfons , Ramser, Juliane 

Få fuldtekst Få fuldtekst

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome af van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Leroy, Jules G, Kooy, R Frank

Få fuldtekst Få fuldtekst Få fuldtekst

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3) af Holinski-Feder, Elke, Reyniers, Edwin, Uhrig, Sabine, Golla, Astrid, Wauters, Jan, Kroisel, Peter, Bossuyt, Paul, Rost, Imma, Jedele, Kerry, Zierler, Hannelore, Schwab, Sieglinde, Wildenauer, Dieter, Speicher, Michael R., Willems, Patrick J., Meitinger, Thomas, Kooy, R. Frank

Få fuldtekst Få fuldtekst

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 af Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S., Bengani, Hemant, Wilson, David I., Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Douglas, Evelyn, Thompson, Geoffrey, Haan, Eric, Gecz, Jozef, FitzPatrick, David R., Kooy, R. Frank

Få fuldtekst Få fuldtekst Få fuldtekst

Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11 af Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., van den Ouweland, Ans M. W., Raskind, Wendy H., Hofstede, Floris C., Reyniers, Edwin, Wells, Dan E., de Vries, Bert, Conrad, Ernest U., Hill, April, Zalatayev, Dmitry, Weissenbach, Jean, Wagner, Michael J., Bakker, Egbert, Halley, Dicky J. J., Willems, Patrick J.

Få fuldtekst Få fuldtekst

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene af Luyckx, Ilse, Kumar, Ajay A., Reyniers, Edwin, Dekeyser, Emily, Vanderstraeten, Kathleen, Vandeweyer, Geert, Wünnemann, Florian, Preuss, Christoph, Mazzella, Jean-Michaël, Goudot, Guillaume, Messas, Emmanuel, Albuisson, Juliette, Jeunemaitre, Xavier, Eriksson, Per, Mohamed, Salah A., Kempers, Marlies, Salemink, Simone, Duijnhouwer, Anthonie, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.

Få fuldtekst Få fuldtekst Få fuldtekst

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections af Meester, Josephina A.N., Vandeweyer, Geert, Pintelon, Isabel, Lammens, Martin, Van Hoorick, Lana, De Belder, Simon, Waitzman, Kathryn, Young, Luciana, Markham, Larry W., Vogt, Julie, Richer, Julie, Beauchesne, Luc M., Unger, Sheila, Superti-Furga, Andrea, Prsa, Milan, Dhillon, Rami, Reyniers, Edwin, Dietz, Harry C., Wuyts, Wim, Mortier, Geert, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.

Få fuldtekst Få fuldtekst Få fuldtekst

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature af El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina S, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu P, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien S Klein, Faivre, Laurence

Få fuldtekst Få fuldtekst Få fuldtekst