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Showing results (121-130 of 127) with videos related to

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Arthritis and Rheumatism|December 17, 2010
Association of the CD226 Ser(307) variant with systemic sclerosis: evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesisP Dieudé, M Guedj, M E Truchetet, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationL Faivre, G Collod-Beroud, B Callewaert, et al.
Clinical Genetics|May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?L Faivre, G Collod-Beroud, L Adès, et al.
Genome Medicine|December 31, 2024
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panelA Drackley, C Somerville, P Arnaud, et al.
American Journal of Human Genetics|August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyL Faivre, G Collod-Beroud, B L Loeys, et al.
JAMA|May 20, 1992
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter studyJ S Chamberlain, J R Chamberlain, R G Fenwick, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
Pageof 13

Showing results (121-130 of 127) with videos related to

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Pageof 13
You have reached the last page of results.This site can display upto 127 results.
Arthritis and Rheumatism|December 17, 2010
Association of the CD226 Ser(307) variant with systemic sclerosis: evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesisP Dieudé, M Guedj, M E Truchetet, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationL Faivre, G Collod-Beroud, B Callewaert, et al.
Clinical Genetics|May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?L Faivre, G Collod-Beroud, L Adès, et al.
Genome Medicine|December 31, 2024
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panelA Drackley, C Somerville, P Arnaud, et al.
American Journal of Human Genetics|August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyL Faivre, G Collod-Beroud, B L Loeys, et al.
JAMA|May 20, 1992
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter studyJ S Chamberlain, J R Chamberlain, R G Fenwick, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
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