Search research articles
Contact Us
Filters
Showing results (121-130 of 149) with videos related to
Page
of 15
Sort By:
Journal of Neuromuscular Diseases
|
November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
Isabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
European Journal of Medical Genetics
|
May 19, 2010
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
Laurence Faivre, Philippe Khau Van Kien, Patrick Callier, et al.
Human Mutation
|
September 11, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders
Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
Nature Genetics
|
July 6, 2004
Heterozygous TGFBR2 mutations in Marfan syndrome
Takeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 17, 2009
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
Richard G H Cotton, Aida I Al Aqeel, Fahd Al-Mulla, et al.
American Journal of Human Genetics
|
October 18, 2016
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Luca Bello, Kevin M Flanigan, Robert B Weiss, et al.
Human Molecular Genetics
|
June 26, 2007
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations
Melissa Thys, Isabelle Schrauwen, Kathleen Vanderstraeten, et al.
Human Mutation
|
April 27, 2011
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
Bernhard Steiner, Jonas Rosendahl, Heiko Witt, et al.
The Journal of Molecular Diagnostics : JMD
|
May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes
Reda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
European Journal of Human Genetics : EJHG
|
January 4, 2020
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
Pietro Spitali, Irina Zaharieva, Stefan Bohringer, et al.
Page
of 15
Search research articles
Search
Showing results (121-130 of 149) with videos related to
Sort By:
Page
of 15
Journal of Neuromuscular Diseases
|
November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
Isabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
European Journal of Medical Genetics
|
May 19, 2010
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
Laurence Faivre, Philippe Khau Van Kien, Patrick Callier, et al.
Human Mutation
|
September 11, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders
Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
Nature Genetics
|
July 6, 2004
Heterozygous TGFBR2 mutations in Marfan syndrome
Takeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 17, 2009
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
Richard G H Cotton, Aida I Al Aqeel, Fahd Al-Mulla, et al.
American Journal of Human Genetics
|
October 18, 2016
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Luca Bello, Kevin M Flanigan, Robert B Weiss, et al.
Human Molecular Genetics
|
June 26, 2007
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations
Melissa Thys, Isabelle Schrauwen, Kathleen Vanderstraeten, et al.
Human Mutation
|
April 27, 2011
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
Bernhard Steiner, Jonas Rosendahl, Heiko Witt, et al.
The Journal of Molecular Diagnostics : JMD
|
May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes
Reda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
European Journal of Human Genetics : EJHG
|
January 4, 2020
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
Pietro Spitali, Irina Zaharieva, Stefan Bohringer, et al.
Page
of 15