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P N Robinson

Showing results (81-90 of 88) with videos related to

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European Journal of Human Genetics : EJHG|February 15, 2001
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40F Tiecke, S Katzke, P Booms, et al.
Clinical Genetics|September 3, 2011
Analysis of phenotype and genotype information for the diagnosis of Marfan syndromeS Sheikhzadeh, C Kade, B Keyser, et al.
Journal of Medical Genetics|March 31, 2006
The molecular genetics of Marfan syndrome and related disordersP N Robinson, E Arteaga-Solis, C Baldock, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionL Faivre, G Collod-Beroud, B Callewaert, 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.
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.
Pageof 9

Showing results (81-90 of 88) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 88 results.
European Journal of Human Genetics : EJHG|February 15, 2001
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40F Tiecke, S Katzke, P Booms, et al.
Clinical Genetics|September 3, 2011
Analysis of phenotype and genotype information for the diagnosis of Marfan syndromeS Sheikhzadeh, C Kade, B Keyser, et al.
Journal of Medical Genetics|March 31, 2006
The molecular genetics of Marfan syndrome and related disordersP N Robinson, E Arteaga-Solis, C Baldock, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionL Faivre, G Collod-Beroud, B Callewaert, 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.
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.
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