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JIMD Reports
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February 23, 2013
Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT
W Terryn, R Vanholder, D Hemelsoet, et al.
European Heart Journal. Quality of Care & Clinical Outcomes
|
June 27, 2025
Pregnancy outcomes in women with heritable thoracic aortic disease: data from the EORP ESC Registry of Pregnancy and Cardiac disease (ROPAC) III
P N J Peters, J A Van Der Zande, J De Backer, 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 probands
L Faivre, G Collod-Beroud, A Child, et al.
Human Mutation
|
October 16, 2007
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families
B L Callewaert, A Willaert, W S Kerstjens-Frederikse, 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 criterion
L 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 mutation
L 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 panel
A 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 study
L Faivre, G Collod-Beroud, B L Loeys, et al.
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of 4
Search research articles
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Showing results (31-40 of 39) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 39 results.
JIMD Reports
|
February 23, 2013
Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT
W Terryn, R Vanholder, D Hemelsoet, et al.
European Heart Journal. Quality of Care & Clinical Outcomes
|
June 27, 2025
Pregnancy outcomes in women with heritable thoracic aortic disease: data from the EORP ESC Registry of Pregnancy and Cardiac disease (ROPAC) III
P N J Peters, J A Van Der Zande, J De Backer, 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 probands
L Faivre, G Collod-Beroud, A Child, et al.
Human Mutation
|
October 16, 2007
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families
B L Callewaert, A Willaert, W S Kerstjens-Frederikse, 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 criterion
L 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 mutation
L 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 panel
A 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 study
L Faivre, G Collod-Beroud, B L Loeys, et al.
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of 4