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Pediatric Neurology
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August 30, 2024
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
Liene Thys, Diane Beysen, Berten Ceulemans, et al.
Neurobiology of Disease
|
October 4, 2005
Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model
Ilse Gantois, Jo Vandesompele, Frank Speleman, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
Liesbeth Rooms, Geert Vandeweyer, Edwin Reyniers, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review
Winnie Courtens, Wim Wuyts, Martin Poot, et al.
Human Mutation
|
December 26, 2003
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, et al.
American Journal of Human Genetics
|
January 20, 2007
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior
Claus Lenski, R Frank Kooy, Edwin Reyniers, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2006
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
Liesbeth Rooms, Edwin Reyniers, Stefaan Scheers, et al.
European Journal of Human Genetics : EJHG
|
July 14, 2016
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
Ilse M van der Werf, Karin Buiting, Christina Czeschik, et al.
Gene
|
December 21, 2016
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
Ilse M van der Werf, Anke Van Dijck, Edwin Reyniers, et al.
Plos Genetics
|
April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 39) with videos related to
Sort By:
Page
of 4
Pediatric Neurology
|
August 30, 2024
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
Liene Thys, Diane Beysen, Berten Ceulemans, et al.
Neurobiology of Disease
|
October 4, 2005
Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model
Ilse Gantois, Jo Vandesompele, Frank Speleman, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
Liesbeth Rooms, Geert Vandeweyer, Edwin Reyniers, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review
Winnie Courtens, Wim Wuyts, Martin Poot, et al.
Human Mutation
|
December 26, 2003
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, et al.
American Journal of Human Genetics
|
January 20, 2007
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior
Claus Lenski, R Frank Kooy, Edwin Reyniers, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2006
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
Liesbeth Rooms, Edwin Reyniers, Stefaan Scheers, et al.
European Journal of Human Genetics : EJHG
|
July 14, 2016
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
Ilse M van der Werf, Karin Buiting, Christina Czeschik, et al.
Gene
|
December 21, 2016
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
Ilse M van der Werf, Anke Van Dijck, Edwin Reyniers, et al.
Plos Genetics
|
April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Page
of 4