Kết quả tìm kiếm - Edwin Reyniers
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CNV-WebStore: Online CNV Analysis, Storage and Interpretation Bằng Geert Vandeweyer, Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, R. Frank Kooy
Được phát hành 2011Artigo -
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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) Bằng Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, J. Wauters, Berten Ceulemans, Jenneke van den Ende, Yolande van Bever, R. Frank Kooy
Được phát hành 2003Artigo -
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Alternative splicing in the fragile X gene <i>FMR1</i> Bằng 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
Được phát hành 1993Artigo -
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FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 Bằng 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
Được phát hành 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 Bằng 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
Được phát hành 2016Artigo -
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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature Bằng 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
Được phát hành 2016Artigo
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Các môn học liên quan
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