نتائج البحث - Edwin Reyniers
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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) حسب Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, J. Wauters, Berten Ceulemans, Jenneke van den Ende, Yolande van Bever, R. Frank Kooy
منشور في 2003Artigo -
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Alternative splicing in the fragile X gene <i>FMR1</i> حسب Annemieke J.M.H. Verkerk, Esther de Graaff, Kristel De Boulle, Evan E. Eichler, David Konecki, Edwin Reyniers, Antonella Manca, Annemarie Poustka, Patrick J. Willems, David L. Nelson, B. A. Oostra
منشور في 1993Artigo -
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FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 حسب Sofie Metsu, Liesbeth Rooms, Jacqueline K. Rainger, Martin S. Taylor, Hemant Bengani, David I. Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey N. Thompson, Eric Haan, Jozef Gécz, David Fitzpatrick, R. Frank Kooy
منشور في 2014Artigo -
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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections حسب Josephina Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W. Markham, Julie Vogt, Julie Richer, Luc Beauchesne, Sheila Unger, Andrea Superti‐Furga, Milan Prša, Rami Dhillon, Edwin Reyniers, Harry C. Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart Loeys
منشور في 2016Artigo -
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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature حسب Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean‐Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P. Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot‐Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, R. Frank Kooy, Miroslava Hančárová, Markéta Havlovicová, Darina Prchalová, Zdeněk Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S. Klein Wassink‐Ruiter, Laurence Faivre
منشور في 2016Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Internal medicine
Medicine
Fragile X syndrome
Biochemistry
Candidate gene
FMR1
Phenotype
Allele
Allergy
Amygdala
Anaphylaxis
Anatomy
Annotation
Aorta
Aortic aneurysm
Aortic dissection
Art
Art history
Artificial intelligence
Bisulfite sequencing
Bottleneck
Chromosome
Ciliopathy
Cognition
Coloboma
Computational biology
Computer science